Canonical Allele Identifier: CA2320327

Gene: SCN10A

Linked Data

• ClinVar Variation Id: 3225644
• ClinVar RCV Id: RCV004516926
• dbSNP Id: rs764654987
• ExAC: 3:38766706 C / T
• gnomAD v2: 3-38766706-C-T
• gnomAD v3: 3-38725215-C-T
• gnomAD v4: 3-38725215-C-T
• MyVariant Identifiers: chr3:g.38766706C>T (hg19) ; chr3:g.38725215C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38725215C>T , CM000665.2:g.38725215C>T	GRCh38
NC_000003.11:g.38766706C>T , CM000665.1:g.38766706C>T	GRCh37
NC_000003.10:g.38741710C>T	NCBI36
NG_031891.2:g.73796G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449082.3:c.3187G>A MANE Select	ENSP00000390600.2:p.Glu1063Lys
ENST00000643924.1:c.3184G>A	ENSP00000495595.1:p.Glu1062Lys
ENST00000655275.1:c.3211G>A	ENSP00000499510.1:p.Glu1071Lys
ENST00000449082.2:c.3187G>A	ENSP00000390600.2:p.Glu1063Lys
NM_001293306.2:c.3184G>A	NP_001280235.2:p.Glu1062Lys
NM_001293307.2:c.2893G>A	NP_001280236.2:p.Glu965Lys
NM_006514.3:c.3187G>A	NP_006505.3:p.Glu1063Lys
XM_005265371.2:c.3196G>A	XP_005265428.1:p.Glu1066Lys
XM_011533993.1:c.3193G>A	XP_011532295.1:p.Glu1065Lys
XM_011533994.1:c.2902G>A	XP_011532296.1:p.Glu968Lys
XM_005265371.3:c.3196G>A	XP_005265428.1:p.Glu1066Lys
XM_011533993.2:c.3193G>A	XP_011532295.1:p.Glu1065Lys
XM_011533994.2:c.2902G>A	XP_011532296.1:p.Glu968Lys
NM_006514.4:c.3187G>A MANE Select	NP_006505.4:p.Glu1063Lys