Canonical Allele Identifier: CA2320357

Gene: SCN10A

Linked Data

• dbSNP Id: rs778772059
• ExAC: 3:38766805 G / A
• gnomAD v2: 3-38766805-G-A
• gnomAD v4: 3-38725314-G-A
• MyVariant Identifiers: chr3:g.38766805G>A (hg19) ; chr3:g.38725314G>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449082.3:c.3088C>T MANE Select	ENSP00000390600.2:p.Gln1030Ter
ENST00000643924.1:c.3088-3C>T	ENSP00000495595.1:n.3088-3C>T
ENST00000655275.1:c.3115-3C>T	ENSP00000499510.1:n.3115-3C>T
ENST00000449082.2:c.3088C>T	ENSP00000390600.2:p.Gln1030Ter
NM_001293306.2:c.3088-3C>T	NP_001280235.2:n.3088-3C>T
NM_001293307.2:c.2794C>T	NP_001280236.2:p.Gln932Ter
NM_006514.3:c.3088C>T	NP_006505.3:p.Gln1030Ter
XM_005265371.2:c.3097C>T	XP_005265428.1:p.Gln1033Ter
XM_011533993.1:c.3097-3C>T	XP_011532295.1:n.3097-3C>T
XM_011533994.1:c.2803C>T	XP_011532296.1:p.Gln935Ter
XM_005265371.3:c.3097C>T	XP_005265428.1:p.Gln1033Ter
XM_011533993.2:c.3097-3C>T	XP_011532295.1:n.3097-3C>T
XM_011533994.2:c.2803C>T	XP_011532296.1:p.Gln935Ter
NM_006514.4:c.3088C>T MANE Select	NP_006505.4:p.Gln1030Ter