ClinVar

NM_000257.4(MYH7):c.4276G>A (p.Glu1426Lys)

Genes:

MYH7:myosin heavy chain 7 [Gene - OMIM - HGNC]
MHRT:myosin heavy chain associated RNA transcript [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

14q11.2

Genomic location:

• Chr14: 23417580 (on Assembly GRCh38)
• Chr14: 23886789 (on Assembly GRCh37)

Preferred name:

NM_000257.4(MYH7):c.4276G>A (p.Glu1426Lys)

Other names:

NM_000257.3(MYH7):c.4276G>A; NM_000257.4(MYH7):c.4276G>A

HGVS:

• NC_000014.9:g.23417580C>T
• NG_007884.1:g.23082G>A
• NM_000257.4:c.4276G>AMANE SELECT
• NP_000248.2:p.Glu1426Lys
• LRG_384t1:c.4276G>A
• LRG_384:g.23082G>A
• NC_000014.8:g.23886789C>T
• NM_000257.2:c.4276G>A
• NM_000257.3:c.4276G>A
• NR_126491.1:n.861C>T
• P12883:p.Glu1426Lys
• c.4276G>A

This HGVS expression did not pass validation

Protein change:

E1426K

Links:

UniProtKB: P12883#VAR_042826; dbSNP: rs397516208

NCBI 1000 Genomes Browser:

rs397516208

Molecular consequence:

• NM_000257.4:c.4276G>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_126491.1:n.861C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

1