Canonical Allele Identifier: CA352167254

Gene: SCN10A

Linked Data

• gnomAD v4: 3-38752306-T-G
• MyVariant Identifiers: chr3:g.38793797T>G (hg19) ; chr3:g.38752306T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38752306T>G , CM000665.2:g.38752306T>G	GRCh38
NC_000003.11:g.38793797T>G , CM000665.1:g.38793797T>G	GRCh37
NC_000003.10:g.38768801T>G	NCBI36
NG_031891.2:g.46705A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449082.3:c.1668A>C MANE Select	ENSP00000390600.2:p.Gln556His
ENST00000643924.1:c.1668A>C	ENSP00000495595.1:p.Gln556His
ENST00000655275.1:c.1695A>C	ENSP00000499510.1:p.Gln565His
ENST00000449082.2:c.1668A>C	ENSP00000390600.2:p.Gln556His
NM_001293306.2:c.1668A>C	NP_001280235.2:p.Gln556His
NM_001293307.2:c.1462-2122A>C	NP_001280236.2:n.1462-2122A>C
NM_006514.3:c.1668A>C	NP_006505.3:p.Gln556His
XM_005265371.2:c.1677A>C	XP_005265428.1:p.Gln559His
XM_011533993.1:c.1677A>C	XP_011532295.1:p.Gln559His
XM_011533994.1:c.1471-2122A>C	XP_011532296.1:n.1471-2122A>C
XM_005265371.3:c.1677A>C	XP_005265428.1:p.Gln559His
XM_011533993.2:c.1677A>C	XP_011532295.1:p.Gln559His
XM_011533994.2:c.1471-2122A>C	XP_011532296.1:n.1471-2122A>C
NM_006514.4:c.1668A>C MANE Select	NP_006505.4:p.Gln556His