Canonical Allele Identifier: CA352150848

Gene: SCN10A

Linked Data

• MyVariant Identifiers: chr3:g.38753736T>A (hg19) ; chr3:g.38712245T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38712245T>A , CM000665.2:g.38712245T>A	GRCh38
NC_000003.11:g.38753736T>A , CM000665.1:g.38753736T>A	GRCh37
NC_000003.10:g.38728740T>A	NCBI36
NG_031891.2:g.86766A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000449082.3:c.4005A>T MANE Select	ENSP00000390600.2:p.Gln1335His
ENST00000643924.1:c.4002A>T	ENSP00000495595.1:p.Gln1334His
ENST00000655275.1:c.4029A>T	ENSP00000499510.1:p.Gln1343His
ENST00000449082.2:c.4005A>T	ENSP00000390600.2:p.Gln1335His
NM_001293306.2:c.4002A>T	NP_001280235.2:p.Gln1334His
NM_001293307.2:c.3711A>T	NP_001280236.2:p.Gln1237His
NM_006514.3:c.4005A>T	NP_006505.3:p.Gln1335His
XM_005265371.2:c.4014A>T	XP_005265428.1:p.Gln1338His
XM_011533993.1:c.4011A>T	XP_011532295.1:p.Gln1337His
XM_011533994.1:c.3720A>T	XP_011532296.1:p.Gln1240His
XM_005265371.3:c.4014A>T	XP_005265428.1:p.Gln1338His
XM_011533993.2:c.4011A>T	XP_011532295.1:p.Gln1337His
XM_011533994.2:c.3720A>T	XP_011532296.1:p.Gln1240His
NM_006514.4:c.4005A>T MANE Select	NP_006505.4:p.Gln1335His