Canonical Allele Identifier: CA352156599

Gene: SCN10A

Linked Data

• gnomAD v4: 3-38725187-T-C
• MyVariant Identifiers: chr3:g.38766678T>C (hg19) ; chr3:g.38725187T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38725187T>C , CM000665.2:g.38725187T>C	GRCh38
NC_000003.11:g.38766678T>C , CM000665.1:g.38766678T>C	GRCh37
NC_000003.10:g.38741682T>C	NCBI36
NG_031891.2:g.73824A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449082.3:c.3215A>G MANE Select	ENSP00000390600.2:p.Gln1072Arg
ENST00000643924.1:c.3212A>G	ENSP00000495595.1:p.Gln1071Arg
ENST00000655275.1:c.3239A>G	ENSP00000499510.1:p.Gln1080Arg
ENST00000449082.2:c.3215A>G	ENSP00000390600.2:p.Gln1072Arg
NM_001293306.2:c.3212A>G	NP_001280235.2:p.Gln1071Arg
NM_001293307.2:c.2921A>G	NP_001280236.2:p.Gln974Arg
NM_006514.3:c.3215A>G	NP_006505.3:p.Gln1072Arg
XM_005265371.2:c.3224A>G	XP_005265428.1:p.Gln1075Arg
XM_011533993.1:c.3221A>G	XP_011532295.1:p.Gln1074Arg
XM_011533994.1:c.2930A>G	XP_011532296.1:p.Gln977Arg
XM_005265371.3:c.3224A>G	XP_005265428.1:p.Gln1075Arg
XM_011533993.2:c.3221A>G	XP_011532295.1:p.Gln1074Arg
XM_011533994.2:c.2930A>G	XP_011532296.1:p.Gln977Arg
NM_006514.4:c.3215A>G MANE Select	NP_006505.4:p.Gln1072Arg