ClinVar

NM_000492.4(CFTR):c.2908G>A (p.Gly970Ser)

Gene:

CFTR:CF transmembrane conductance regulator [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7q31.2

Genomic location:

• Chr7: 117603782 (on Assembly GRCh38)
• Chr7: 117243836 (on Assembly GRCh37)

Preferred name:

NM_000492.4(CFTR):c.2908G>A (p.Gly970Ser)

HGVS:

• NC_000007.14:g.117603782G>A
• NG_016465.4:g.142999G>A
• NM_000492.4:c.2908G>AMANE SELECT
• NP_000483.3:p.Gly970Ser
• NP_000483.3:p.Gly970Ser
• LRG_663t1:c.2908G>A
• LRG_663:g.142999G>A
• LRG_663p1:p.Gly970Ser
• NC_000007.13:g.117243836G>A
• NM_000492.3:c.2908G>A

This HGVS expression did not pass validation

Protein change:

G970S

Links:

dbSNP: rs397508453

NCBI 1000 Genomes Browser:

rs397508453

Molecular consequence:

• NM_000492.4:c.2908G>A - missense variant - [Sequence Ontology: SO:0001583]