Canonical Allele Identifier: CA2320361

Gene: SCN10A

Linked Data

• ClinVar Variation Id: 380870
• ClinVar RCV Id: RCV000423527 ; RCV002062363
• dbSNP Id: rs11129804
• ExAC: 3:38766825 A / G
• gnomAD v2: 3-38766825-A-G
• gnomAD v3: 3-38725334-A-G
• gnomAD v4: 3-38725334-A-G
• MyVariant Identifiers: chr3:g.38766825A>G (hg19) ; chr3:g.38725334A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38725334A>G , CM000665.2:g.38725334A>G	GRCh38
NC_000003.11:g.38766825A>G , CM000665.1:g.38766825A>G	GRCh37
NC_000003.10:g.38741829A>G	NCBI36
NG_031891.2:g.73677T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449082.3:c.3088-20T>C MANE Select	ENSP00000390600.2:n.3088-20T>C
ENST00000643924.1:c.3088-23T>C	ENSP00000495595.1:n.3088-23T>C
ENST00000655275.1:c.3115-23T>C	ENSP00000499510.1:n.3115-23T>C
ENST00000449082.2:c.3088-20T>C	ENSP00000390600.2:n.3088-20T>C
NM_001293306.2:c.3088-23T>C	NP_001280235.2:n.3088-23T>C
NM_001293307.2:c.2794-20T>C	NP_001280236.2:n.2794-20T>C
NM_006514.3:c.3088-20T>C	NP_006505.3:n.3088-20T>C
XM_005265371.2:c.3097-20T>C	XP_005265428.1:n.3097-20T>C
XM_011533993.1:c.3097-23T>C	XP_011532295.1:n.3097-23T>C
XM_011533994.1:c.2803-20T>C	XP_011532296.1:n.2803-20T>C
XM_005265371.3:c.3097-20T>C	XP_005265428.1:n.3097-20T>C
XM_011533993.2:c.3097-23T>C	XP_011532295.1:n.3097-23T>C
XM_011533994.2:c.2803-20T>C	XP_011532296.1:n.2803-20T>C
NM_006514.4:c.3088-20T>C MANE Select	NP_006505.4:n.3088-20T>C