Canonical Allele Identifier: CA352156759

Gene: SCN10A

Linked Data

• dbSNP Id: rs1299508220
• gnomAD v2: 3-38766757-T-C
• gnomAD v4: 3-38725266-T-C
• MyVariant Identifiers: chr3:g.38766757T>C (hg19) ; chr3:g.38725266T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38725266T>C , CM000665.2:g.38725266T>C	GRCh38
NC_000003.11:g.38766757T>C , CM000665.1:g.38766757T>C	GRCh37
NC_000003.10:g.38741761T>C	NCBI36
NG_031891.2:g.73745A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449082.3:c.3136A>G MANE Select	ENSP00000390600.2:p.Arg1046Gly
ENST00000643924.1:c.3133A>G	ENSP00000495595.1:p.Arg1045Gly
ENST00000655275.1:c.3160A>G	ENSP00000499510.1:p.Arg1054Gly
ENST00000449082.2:c.3136A>G	ENSP00000390600.2:p.Arg1046Gly
NM_001293306.2:c.3133A>G	NP_001280235.2:p.Arg1045Gly
NM_001293307.2:c.2842A>G	NP_001280236.2:p.Arg948Gly
NM_006514.3:c.3136A>G	NP_006505.3:p.Arg1046Gly
XM_005265371.2:c.3145A>G	XP_005265428.1:p.Arg1049Gly
XM_011533993.1:c.3142A>G	XP_011532295.1:p.Arg1048Gly
XM_011533994.1:c.2851A>G	XP_011532296.1:p.Arg951Gly
XM_005265371.3:c.3145A>G	XP_005265428.1:p.Arg1049Gly
XM_011533993.2:c.3142A>G	XP_011532295.1:p.Arg1048Gly
XM_011533994.2:c.2851A>G	XP_011532296.1:p.Arg951Gly
NM_006514.4:c.3136A>G MANE Select	NP_006505.4:p.Arg1046Gly