Canonical Allele Identifier: CA2319642

Gene: SCN10A

Linked Data

• ClinVar Variation Id: 463269
• ClinVar RCV Id: RCV002350245
• dbSNP Id: rs115463830
• ExAC: 3:38739108 T / G
• gnomAD v2: 3-38739108-T-G
• gnomAD v3: 3-38697617-T-G
• gnomAD v4: 3-38697617-T-G
• MyVariant Identifiers: chr3:g.38739108T>G (hg19) ; chr3:g.38697617T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38697617T>G , CM000665.2:g.38697617T>G	GRCh38
NC_000003.11:g.38739108T>G , CM000665.1:g.38739108T>G	GRCh37
NC_000003.10:g.38714112T>G	NCBI36
NG_031891.2:g.101394A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000449082.3:c.5603A>C MANE Select	ENSP00000390600.2:p.His1868Pro
ENST00000643924.1:c.5600A>C	ENSP00000495595.1:p.His1867Pro
ENST00000655275.1:c.5627A>C	ENSP00000499510.1:p.His1876Pro
ENST00000449082.2:c.5603A>C	ENSP00000390600.2:p.His1868Pro
NM_001293306.2:c.5600A>C	NP_001280235.2:p.His1867Pro
NM_001293307.2:c.5309A>C	NP_001280236.2:p.His1770Pro
NM_006514.3:c.5603A>C	NP_006505.3:p.His1868Pro
XM_005265371.2:c.5612A>C	XP_005265428.1:p.His1871Pro
XM_011533993.1:c.5609A>C	XP_011532295.1:p.His1870Pro
XM_011533994.1:c.5318A>C	XP_011532296.1:p.His1773Pro
XM_005265371.3:c.5612A>C	XP_005265428.1:p.His1871Pro
XM_011533993.2:c.5609A>C	XP_011532295.1:p.His1870Pro
XM_011533994.2:c.5318A>C	XP_011532296.1:p.His1773Pro
NM_006514.4:c.5603A>C MANE Select	NP_006505.4:p.His1868Pro