Canonical Allele Identifier: CA433138451

Gene: SCN10A

Linked Data

• dbSNP Id: rs1403342008
• gnomAD v2: 3-38766677-C-T
• gnomAD v4: 3-38725186-C-T
• MyVariant Identifiers: chr3:g.38766677C>T (hg19) ; chr3:g.38725186C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38725186C>T , CM000665.2:g.38725186C>T	GRCh38
NC_000003.11:g.38766677C>T , CM000665.1:g.38766677C>T	GRCh37
NC_000003.10:g.38741681C>T	NCBI36
NG_031891.2:g.73825G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449082.3:c.3216G>A MANE Select	ENSP00000390600.2:p.Gln1072=
ENST00000643924.1:c.3213G>A	ENSP00000495595.1:p.Gln1071=
ENST00000655275.1:c.3240G>A	ENSP00000499510.1:p.Gln1080=
ENST00000449082.2:c.3216G>A	ENSP00000390600.2:p.Gln1072=
NM_001293306.2:c.3213G>A	NP_001280235.2:p.Gln1071=
NM_001293307.2:c.2922G>A	NP_001280236.2:p.Gln974=
NM_006514.3:c.3216G>A	NP_006505.3:p.Gln1072=
XM_005265371.2:c.3225G>A	XP_005265428.1:p.Gln1075=
XM_011533993.1:c.3222G>A	XP_011532295.1:p.Gln1074=
XM_011533994.1:c.2931G>A	XP_011532296.1:p.Gln977=
XM_005265371.3:c.3225G>A	XP_005265428.1:p.Gln1075=
XM_011533993.2:c.3222G>A	XP_011532295.1:p.Gln1074=
XM_011533994.2:c.2931G>A	XP_011532296.1:p.Gln977=
NM_006514.4:c.3216G>A MANE Select	NP_006505.4:p.Gln1072=