Canonical Allele Identifier: CA352156862

Gene: SCN10A

Linked Data

• gnomAD v4: 3-38725314-G-T
• MyVariant Identifiers: chr3:g.38766805G>T (hg19) ; chr3:g.38725314G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38725314G>T , CM000665.2:g.38725314G>T	GRCh38
NC_000003.11:g.38766805G>T , CM000665.1:g.38766805G>T	GRCh37
NC_000003.10:g.38741809G>T	NCBI36
NG_031891.2:g.73697C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449082.3:c.3088C>A MANE Select	ENSP00000390600.2:p.Gln1030Lys
ENST00000643924.1:c.3088-3C>A	ENSP00000495595.1:n.3088-3C>A
ENST00000655275.1:c.3115-3C>A	ENSP00000499510.1:n.3115-3C>A
ENST00000449082.2:c.3088C>A	ENSP00000390600.2:p.Gln1030Lys
NM_001293306.2:c.3088-3C>A	NP_001280235.2:n.3088-3C>A
NM_001293307.2:c.2794C>A	NP_001280236.2:p.Gln932Lys
NM_006514.3:c.3088C>A	NP_006505.3:p.Gln1030Lys
XM_005265371.2:c.3097C>A	XP_005265428.1:p.Gln1033Lys
XM_011533993.1:c.3097-3C>A	XP_011532295.1:n.3097-3C>A
XM_011533994.1:c.2803C>A	XP_011532296.1:p.Gln935Lys
XM_005265371.3:c.3097C>A	XP_005265428.1:p.Gln1033Lys
XM_011533993.2:c.3097-3C>A	XP_011532295.1:n.3097-3C>A
XM_011533994.2:c.2803C>A	XP_011532296.1:p.Gln935Lys
NM_006514.4:c.3088C>A MANE Select	NP_006505.4:p.Gln1030Lys