Canonical Allele Identifier: CA2320776

Gene: SCN10A

Linked Data

• dbSNP Id: rs749524029
• ExAC: 3:38793733 C / T
• gnomAD v2: 3-38793733-C-T
• MyVariant Identifiers: chr3:g.38793733C>T (hg19) ; chr3:g.38752242C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38752242C>T , CM000665.2:g.38752242C>T	GRCh38
NC_000003.11:g.38793733C>T , CM000665.1:g.38793733C>T	GRCh37
NC_000003.10:g.38768737C>T	NCBI36
NG_031891.2:g.46769G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449082.3:c.1732G>A MANE Select	ENSP00000390600.2:p.Ala578Thr
ENST00000643924.1:c.1732G>A	ENSP00000495595.1:p.Ala578Thr
ENST00000655275.1:c.1759G>A	ENSP00000499510.1:p.Ala587Thr
ENST00000449082.2:c.1732G>A	ENSP00000390600.2:p.Ala578Thr
NM_001293306.2:c.1732G>A	NP_001280235.2:p.Ala578Thr
NM_001293307.2:c.1462-2058G>A	NP_001280236.2:n.1462-2058G>A
NM_006514.3:c.1732G>A	NP_006505.3:p.Ala578Thr
XM_005265371.2:c.1741G>A	XP_005265428.1:p.Ala581Thr
XM_011533993.1:c.1741G>A	XP_011532295.1:p.Ala581Thr
XM_011533994.1:c.1471-2058G>A	XP_011532296.1:n.1471-2058G>A
XM_005265371.3:c.1741G>A	XP_005265428.1:p.Ala581Thr
XM_011533993.2:c.1741G>A	XP_011532295.1:p.Ala581Thr
XM_011533994.2:c.1471-2058G>A	XP_011532296.1:n.1471-2058G>A
NM_006514.4:c.1732G>A MANE Select	NP_006505.4:p.Ala578Thr