Canonical Allele Identifier: CA72950446

Gene: SCN10A

Linked Data

• dbSNP Id: rs868452015
• gnomAD v4: 3-38712242-G-A
• MyVariant Identifiers: chr3:g.38753733G>A (hg19) ; chr3:g.38712242G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38712242G>A , CM000665.2:g.38712242G>A	GRCh38
NC_000003.11:g.38753733G>A , CM000665.1:g.38753733G>A	GRCh37
NC_000003.10:g.38728737G>A	NCBI36
NG_031891.2:g.86769C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000449082.3:c.4008C>T MANE Select	ENSP00000390600.2:p.Asn1336=
ENST00000643924.1:c.4005C>T	ENSP00000495595.1:p.Asn1335=
ENST00000655275.1:c.4032C>T	ENSP00000499510.1:p.Asn1344=
ENST00000449082.2:c.4008C>T	ENSP00000390600.2:p.Asn1336=
NM_001293306.2:c.4005C>T	NP_001280235.2:p.Asn1335=
NM_001293307.2:c.3714C>T	NP_001280236.2:p.Asn1238=
NM_006514.3:c.4008C>T	NP_006505.3:p.Asn1336=
XM_005265371.2:c.4017C>T	XP_005265428.1:p.Asn1339=
XM_011533993.1:c.4014C>T	XP_011532295.1:p.Asn1338=
XM_011533994.1:c.3723C>T	XP_011532296.1:p.Asn1241=
XM_005265371.3:c.4017C>T	XP_005265428.1:p.Asn1339=
XM_011533993.2:c.4014C>T	XP_011532295.1:p.Asn1338=
XM_011533994.2:c.3723C>T	XP_011532296.1:p.Asn1241=
NM_006514.4:c.4008C>T MANE Select	NP_006505.4:p.Asn1336=