Canonical Allele Identifier: CA2320794

Gene: SCN10A

Linked Data

• dbSNP Id: rs778131383
• ExAC: 3:38793825 C / A
• gnomAD v2: 3-38793825-C-A
• gnomAD v4: 3-38752334-C-A
• MyVariant Identifiers: chr3:g.38793825C>A (hg19) ; chr3:g.38752334C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38752334C>A , CM000665.2:g.38752334C>A	GRCh38
NC_000003.11:g.38793825C>A , CM000665.1:g.38793825C>A	GRCh37
NC_000003.10:g.38768829C>A	NCBI36
NG_031891.2:g.46677G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449082.3:c.1640G>T MANE Select	ENSP00000390600.2:p.Gly547Val
ENST00000643924.1:c.1640G>T	ENSP00000495595.1:p.Gly547Val
ENST00000655275.1:c.1667G>T	ENSP00000499510.1:p.Gly556Val
ENST00000449082.2:c.1640G>T	ENSP00000390600.2:p.Gly547Val
NM_001293306.2:c.1640G>T	NP_001280235.2:p.Gly547Val
NM_001293307.2:c.1462-2150G>T	NP_001280236.2:n.1462-2150G>T
NM_006514.3:c.1640G>T	NP_006505.3:p.Gly547Val
XM_005265371.2:c.1649G>T	XP_005265428.1:p.Gly550Val
XM_011533993.1:c.1649G>T	XP_011532295.1:p.Gly550Val
XM_011533994.1:c.1471-2150G>T	XP_011532296.1:n.1471-2150G>T
XM_005265371.3:c.1649G>T	XP_005265428.1:p.Gly550Val
XM_011533993.2:c.1649G>T	XP_011532295.1:p.Gly550Val
XM_011533994.2:c.1471-2150G>T	XP_011532296.1:n.1471-2150G>T
NM_006514.4:c.1640G>T MANE Select	NP_006505.4:p.Gly547Val