Canonical Allele Identifier: CA352156779

Gene: SCN10A

Linked Data

• dbSNP Id: rs2063441569
• gnomAD v4: 3-38725278-G-A
• MyVariant Identifiers: chr3:g.38766769G>A (hg19) ; chr3:g.38725278G>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449082.3:c.3124C>T MANE Select	ENSP00000390600.2:p.His1042Tyr
ENST00000643924.1:c.3121C>T	ENSP00000495595.1:p.His1041Tyr
ENST00000655275.1:c.3148C>T	ENSP00000499510.1:p.His1050Tyr
ENST00000449082.2:c.3124C>T	ENSP00000390600.2:p.His1042Tyr
NM_001293306.2:c.3121C>T	NP_001280235.2:p.His1041Tyr
NM_001293307.2:c.2830C>T	NP_001280236.2:p.His944Tyr
NM_006514.3:c.3124C>T	NP_006505.3:p.His1042Tyr
XM_005265371.2:c.3133C>T	XP_005265428.1:p.His1045Tyr
XM_011533993.1:c.3130C>T	XP_011532295.1:p.His1044Tyr
XM_011533994.1:c.2839C>T	XP_011532296.1:p.His947Tyr
XM_005265371.3:c.3133C>T	XP_005265428.1:p.His1045Tyr
XM_011533993.2:c.3130C>T	XP_011532295.1:p.His1044Tyr
XM_011533994.2:c.2839C>T	XP_011532296.1:p.His947Tyr
NM_006514.4:c.3124C>T MANE Select	NP_006505.4:p.His1042Tyr