Canonical Allele Identifier: CA352156339

Gene: SCN10A

Linked Data

• MyVariant Identifiers: chr3:g.38765001C>A (hg19) ; chr3:g.38723510C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38723510C>A , CM000665.2:g.38723510C>A	GRCh38
NC_000003.11:g.38765001C>A , CM000665.1:g.38765001C>A	GRCh37
NC_000003.10:g.38740005C>A	NCBI36
NG_031891.2:g.75501G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449082.3:c.3272G>T MANE Select	ENSP00000390600.2:p.Cys1091Phe
ENST00000643924.1:c.3269G>T	ENSP00000495595.1:p.Cys1090Phe
ENST00000655275.1:c.3296G>T	ENSP00000499510.1:p.Cys1099Phe
ENST00000449082.2:c.3272G>T	ENSP00000390600.2:p.Cys1091Phe
NM_001293306.2:c.3269G>T	NP_001280235.2:p.Cys1090Phe
NM_001293307.2:c.2978G>T	NP_001280236.2:p.Cys993Phe
NM_006514.3:c.3272G>T	NP_006505.3:p.Cys1091Phe
XM_005265371.2:c.3281G>T	XP_005265428.1:p.Cys1094Phe
XM_011533993.1:c.3278G>T	XP_011532295.1:p.Cys1093Phe
XM_011533994.1:c.2987G>T	XP_011532296.1:p.Cys996Phe
XM_005265371.3:c.3281G>T	XP_005265428.1:p.Cys1094Phe
XM_011533993.2:c.3278G>T	XP_011532295.1:p.Cys1093Phe
XM_011533994.2:c.2987G>T	XP_011532296.1:p.Cys996Phe
NM_006514.4:c.3272G>T MANE Select	NP_006505.4:p.Cys1091Phe