ClinVar

NM_000257.4(MYH7):c.4321G>T (p.Ala1441Ser)

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: 23417535 (on Assembly GRCh38)
• Chr14: 23886744 (on Assembly GRCh37)

Preferred name:

NM_000257.4(MYH7):c.4321G>T (p.Ala1441Ser)

HGVS:

• NC_000014.9:g.23417535C>A
• NG_007884.1:g.23127G>T
• NM_000257.4:c.4321G>TMANE SELECT
• NP_000248.2:p.Ala1441Ser
• LRG_384t1:c.4321G>T
• LRG_384:g.23127G>T
• NC_000014.8:g.23886744C>A
• NM_000257.2:c.4321G>T
• NM_000257.3:c.4321G>T
• NR_126491.1:n.816C>A

This HGVS expression did not pass validation

Protein change:

A1441S

Links:

dbSNP: rs745414245

NCBI 1000 Genomes Browser:

rs745414245

Molecular consequence:

• NM_000257.4:c.4321G>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_126491.1:n.816C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]