Canonical Allele Identifier: CA352156790

Gene: SCN10A

Linked Data

• MyVariant Identifiers: chr3:g.38766774C>A (hg19) ; chr3:g.38725283C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38725283C>A , CM000665.2:g.38725283C>A	GRCh38
NC_000003.11:g.38766774C>A , CM000665.1:g.38766774C>A	GRCh37
NC_000003.10:g.38741778C>A	NCBI36
NG_031891.2:g.73728G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449082.3:c.3119G>T MANE Select	ENSP00000390600.2:p.Gly1040Val
ENST00000643924.1:c.3116G>T	ENSP00000495595.1:p.Gly1039Val
ENST00000655275.1:c.3143G>T	ENSP00000499510.1:p.Gly1048Val
ENST00000449082.2:c.3119G>T	ENSP00000390600.2:p.Gly1040Val
NM_001293306.2:c.3116G>T	NP_001280235.2:p.Gly1039Val
NM_001293307.2:c.2825G>T	NP_001280236.2:p.Gly942Val
NM_006514.3:c.3119G>T	NP_006505.3:p.Gly1040Val
XM_005265371.2:c.3128G>T	XP_005265428.1:p.Gly1043Val
XM_011533993.1:c.3125G>T	XP_011532295.1:p.Gly1042Val
XM_011533994.1:c.2834G>T	XP_011532296.1:p.Gly945Val
XM_005265371.3:c.3128G>T	XP_005265428.1:p.Gly1043Val
XM_011533993.2:c.3125G>T	XP_011532295.1:p.Gly1042Val
XM_011533994.2:c.2834G>T	XP_011532296.1:p.Gly945Val
NM_006514.4:c.3119G>T MANE Select	NP_006505.4:p.Gly1040Val