Canonical Allele Identifier: CA352150863

Gene: SCN10A

Linked Data

• MyVariant Identifiers: chr3:g.38753738G>T (hg19) ; chr3:g.38712247G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38712247G>T , CM000665.2:g.38712247G>T	GRCh38
NC_000003.11:g.38753738G>T , CM000665.1:g.38753738G>T	GRCh37
NC_000003.10:g.38728742G>T	NCBI36
NG_031891.2:g.86764C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000449082.3:c.4003C>A MANE Select	ENSP00000390600.2:p.Gln1335Lys
ENST00000643924.1:c.4000C>A	ENSP00000495595.1:p.Gln1334Lys
ENST00000655275.1:c.4027C>A	ENSP00000499510.1:p.Gln1343Lys
ENST00000449082.2:c.4003C>A	ENSP00000390600.2:p.Gln1335Lys
NM_001293306.2:c.4000C>A	NP_001280235.2:p.Gln1334Lys
NM_001293307.2:c.3709C>A	NP_001280236.2:p.Gln1237Lys
NM_006514.3:c.4003C>A	NP_006505.3:p.Gln1335Lys
XM_005265371.2:c.4012C>A	XP_005265428.1:p.Gln1338Lys
XM_011533993.1:c.4009C>A	XP_011532295.1:p.Gln1337Lys
XM_011533994.1:c.3718C>A	XP_011532296.1:p.Gln1240Lys
XM_005265371.3:c.4012C>A	XP_005265428.1:p.Gln1338Lys
XM_011533993.2:c.4009C>A	XP_011532295.1:p.Gln1337Lys
XM_011533994.2:c.3718C>A	XP_011532296.1:p.Gln1240Lys
NM_006514.4:c.4003C>A MANE Select	NP_006505.4:p.Gln1335Lys