Canonical Allele Identifier: CA2319705

Gene: SCN10A

Linked Data

• ClinVar Variation Id: 532164
• ClinVar RCV Id: RCV000638806
• dbSNP Id: rs750340252
• ExAC: 3:38739425 A / G
• gnomAD v2: 3-38739425-A-G
• gnomAD v4: 3-38697934-A-G
• MyVariant Identifiers: chr3:g.38739425A>G (hg19) ; chr3:g.38697934A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38697934A>G , CM000665.2:g.38697934A>G	GRCh38
NC_000003.11:g.38739425A>G , CM000665.1:g.38739425A>G	GRCh37
NC_000003.10:g.38714429A>G	NCBI36
NG_031891.2:g.101077T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000449082.3:c.5286T>C MANE Select	ENSP00000390600.2:p.Ser1762=
ENST00000643924.1:c.5283T>C	ENSP00000495595.1:p.Ser1761=
ENST00000655275.1:c.5310T>C	ENSP00000499510.1:p.Ser1770=
ENST00000449082.2:c.5286T>C	ENSP00000390600.2:p.Ser1762=
NM_001293306.2:c.5283T>C	NP_001280235.2:p.Ser1761=
NM_001293307.2:c.4992T>C	NP_001280236.2:p.Ser1664=
NM_006514.3:c.5286T>C	NP_006505.3:p.Ser1762=
XM_005265371.2:c.5295T>C	XP_005265428.1:p.Ser1765=
XM_011533993.1:c.5292T>C	XP_011532295.1:p.Ser1764=
XM_011533994.1:c.5001T>C	XP_011532296.1:p.Ser1667=
XM_005265371.3:c.5295T>C	XP_005265428.1:p.Ser1765=
XM_011533993.2:c.5292T>C	XP_011532295.1:p.Ser1764=
XM_011533994.2:c.5001T>C	XP_011532296.1:p.Ser1667=
NM_006514.4:c.5286T>C MANE Select	NP_006505.4:p.Ser1762=