Canonical Allele Identifier: CA352156737

Gene: SCN10A

Linked Data

• dbSNP Id: rs1451593343
• gnomAD v2: 3-38766747-C-T
• gnomAD v4: 3-38725256-C-T
• MyVariant Identifiers: chr3:g.38766747C>T (hg19) ; chr3:g.38725256C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38725256C>T , CM000665.2:g.38725256C>T	GRCh38
NC_000003.11:g.38766747C>T , CM000665.1:g.38766747C>T	GRCh37
NC_000003.10:g.38741751C>T	NCBI36
NG_031891.2:g.73755G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449082.3:c.3146G>A MANE Select	ENSP00000390600.2:p.Gly1049Asp
ENST00000643924.1:c.3143G>A	ENSP00000495595.1:p.Gly1048Asp
ENST00000655275.1:c.3170G>A	ENSP00000499510.1:p.Gly1057Asp
ENST00000449082.2:c.3146G>A	ENSP00000390600.2:p.Gly1049Asp
NM_001293306.2:c.3143G>A	NP_001280235.2:p.Gly1048Asp
NM_001293307.2:c.2852G>A	NP_001280236.2:p.Gly951Asp
NM_006514.3:c.3146G>A	NP_006505.3:p.Gly1049Asp
XM_005265371.2:c.3155G>A	XP_005265428.1:p.Gly1052Asp
XM_011533993.1:c.3152G>A	XP_011532295.1:p.Gly1051Asp
XM_011533994.1:c.2861G>A	XP_011532296.1:p.Gly954Asp
XM_005265371.3:c.3155G>A	XP_005265428.1:p.Gly1052Asp
XM_011533993.2:c.3152G>A	XP_011532295.1:p.Gly1051Asp
XM_011533994.2:c.2861G>A	XP_011532296.1:p.Gly954Asp
NM_006514.4:c.3146G>A MANE Select	NP_006505.4:p.Gly1049Asp