Canonical Allele Identifier: CA352156781

Gene: SCN10A

Linked Data

• gnomAD v4: 3-38725278-G-T
• MyVariant Identifiers: chr3:g.38766769G>T (hg19) ; chr3:g.38725278G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38725278G>T , CM000665.2:g.38725278G>T	GRCh38
NC_000003.11:g.38766769G>T , CM000665.1:g.38766769G>T	GRCh37
NC_000003.10:g.38741773G>T	NCBI36
NG_031891.2:g.73733C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449082.3:c.3124C>A MANE Select	ENSP00000390600.2:p.His1042Asn
ENST00000643924.1:c.3121C>A	ENSP00000495595.1:p.His1041Asn
ENST00000655275.1:c.3148C>A	ENSP00000499510.1:p.His1050Asn
ENST00000449082.2:c.3124C>A	ENSP00000390600.2:p.His1042Asn
NM_001293306.2:c.3121C>A	NP_001280235.2:p.His1041Asn
NM_001293307.2:c.2830C>A	NP_001280236.2:p.His944Asn
NM_006514.3:c.3124C>A	NP_006505.3:p.His1042Asn
XM_005265371.2:c.3133C>A	XP_005265428.1:p.His1045Asn
XM_011533993.1:c.3130C>A	XP_011532295.1:p.His1044Asn
XM_011533994.1:c.2839C>A	XP_011532296.1:p.His947Asn
XM_005265371.3:c.3133C>A	XP_005265428.1:p.His1045Asn
XM_011533993.2:c.3130C>A	XP_011532295.1:p.His1044Asn
XM_011533994.2:c.2839C>A	XP_011532296.1:p.His947Asn
NM_006514.4:c.3124C>A MANE Select	NP_006505.4:p.His1042Asn