Canonical Allele Identifier: CA2320843

Gene: SCN10A

Linked Data

• ClinVar Variation Id: 645935
• ClinVar RCV Id: RCV000800116 ; RCV002388473
• dbSNP Id: rs745630620
• ExAC: 3:38793996 A / G
• gnomAD v2: 3-38793996-A-G
• gnomAD v3: 3-38752505-A-G
• gnomAD v4: 3-38752505-A-G
• MyVariant Identifiers: chr3:g.38793996A>G (hg19) ; chr3:g.38752505A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38752505A>G , CM000665.2:g.38752505A>G	GRCh38
NC_000003.11:g.38793996A>G , CM000665.1:g.38793996A>G	GRCh37
NC_000003.10:g.38769000A>G	NCBI36
NG_031891.2:g.46506T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449082.3:c.1469T>C MANE Select	ENSP00000390600.2:p.Leu490Pro
ENST00000643924.1:c.1469T>C	ENSP00000495595.1:p.Leu490Pro
ENST00000655275.1:c.1496T>C	ENSP00000499510.1:p.Leu499Pro
ENST00000449082.2:c.1469T>C	ENSP00000390600.2:p.Leu490Pro
NM_001293306.2:c.1469T>C	NP_001280235.2:p.Leu490Pro
NM_001293307.2:c.1462-2321T>C	NP_001280236.2:n.1462-2321T>C
NM_006514.3:c.1469T>C	NP_006505.3:p.Leu490Pro
XM_005265371.2:c.1478T>C	XP_005265428.1:p.Leu493Pro
XM_011533993.1:c.1478T>C	XP_011532295.1:p.Leu493Pro
XM_011533994.1:c.1471-2321T>C	XP_011532296.1:n.1471-2321T>C
XM_005265371.3:c.1478T>C	XP_005265428.1:p.Leu493Pro
XM_011533993.2:c.1478T>C	XP_011532295.1:p.Leu493Pro
XM_011533994.2:c.1471-2321T>C	XP_011532296.1:n.1471-2321T>C
NM_006514.4:c.1469T>C MANE Select	NP_006505.4:p.Leu490Pro