Canonical Allele Identifier: CA2320349

Gene: SCN10A

Linked Data

• ClinVar Variation Id: 1727718
• ClinVar RCV Id: RCV002326058
• dbSNP Id: rs376815753
• ExAC: 3:38766784 C / T
• gnomAD v2: 3-38766784-C-T
• gnomAD v3: 3-38725293-C-T
• gnomAD v4: 3-38725293-C-T
• MyVariant Identifiers: chr3:g.38766784C>T (hg19) ; chr3:g.38725293C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38725293C>T , CM000665.2:g.38725293C>T	GRCh38
NC_000003.11:g.38766784C>T , CM000665.1:g.38766784C>T	GRCh37
NC_000003.10:g.38741788C>T	NCBI36
NG_031891.2:g.73718G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449082.3:c.3109G>A MANE Select	ENSP00000390600.2:p.Glu1037Lys
ENST00000643924.1:c.3106G>A	ENSP00000495595.1:p.Glu1036Lys
ENST00000655275.1:c.3133G>A	ENSP00000499510.1:p.Glu1045Lys
ENST00000449082.2:c.3109G>A	ENSP00000390600.2:p.Glu1037Lys
NM_001293306.2:c.3106G>A	NP_001280235.2:p.Glu1036Lys
NM_001293307.2:c.2815G>A	NP_001280236.2:p.Glu939Lys
NM_006514.3:c.3109G>A	NP_006505.3:p.Glu1037Lys
XM_005265371.2:c.3118G>A	XP_005265428.1:p.Glu1040Lys
XM_011533993.1:c.3115G>A	XP_011532295.1:p.Glu1039Lys
XM_011533994.1:c.2824G>A	XP_011532296.1:p.Glu942Lys
XM_005265371.3:c.3118G>A	XP_005265428.1:p.Glu1040Lys
XM_011533993.2:c.3115G>A	XP_011532295.1:p.Glu1039Lys
XM_011533994.2:c.2824G>A	XP_011532296.1:p.Glu942Lys
NM_006514.4:c.3109G>A MANE Select	NP_006505.4:p.Glu1037Lys