Canonical Allele Identifier: CA2320788

Gene: SCN10A

Linked Data

• dbSNP Id: rs1553620443
• ExAC: 3:38793787 G / T
• gnomAD v2: 3-38793787-G-T
• gnomAD v4: 3-38752296-G-T
• COSMIC: COSM5767446
• MyVariant Identifiers: chr3:g.38793787G>T (hg19) ; chr3:g.38793787_38793790delinsTGTT (hg19) ; chr3:g.38752296G>T (hg38) ; chr3:g.38752296_38752299delinsTGTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38752296G>T , CM000665.2:g.38752296G>T	GRCh38
NC_000003.11:g.38793787G>T , CM000665.1:g.38793787G>T	GRCh37
NC_000003.10:g.38768791G>T	NCBI36
NG_031891.2:g.46715C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449082.3:c.1678C>A MANE Select	ENSP00000390600.2:p.Pro560Thr
ENST00000643924.1:c.1678C>A	ENSP00000495595.1:p.Pro560Thr
ENST00000655275.1:c.1705C>A	ENSP00000499510.1:p.Pro569Thr
ENST00000449082.2:c.1678C>A	ENSP00000390600.2:p.Pro560Thr
NM_001293306.2:c.1678C>A	NP_001280235.2:p.Pro560Thr
NM_001293307.2:c.1462-2112C>A	NP_001280236.2:n.1462-2112C>A
NM_006514.3:c.1678C>A	NP_006505.3:p.Pro560Thr
XM_005265371.2:c.1687C>A	XP_005265428.1:p.Pro563Thr
XM_011533993.1:c.1687C>A	XP_011532295.1:p.Pro563Thr
XM_011533994.1:c.1471-2112C>A	XP_011532296.1:n.1471-2112C>A
XM_005265371.3:c.1687C>A	XP_005265428.1:p.Pro563Thr
XM_011533993.2:c.1687C>A	XP_011532295.1:p.Pro563Thr
XM_011533994.2:c.1471-2112C>A	XP_011532296.1:n.1471-2112C>A
NM_006514.4:c.1678C>A MANE Select	NP_006505.4:p.Pro560Thr