Canonical Allele Identifier: CA2320356

Gene: SCN10A

Linked Data

• dbSNP Id: rs757082613
• ExAC: 3:38766804 T / A
• gnomAD v2: 3-38766804-T-A
• gnomAD v4: 3-38725313-T-A
• MyVariant Identifiers: chr3:g.38766804T>A (hg19) ; chr3:g.38725313T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38725313T>A , CM000665.2:g.38725313T>A	GRCh38
NC_000003.11:g.38766804T>A , CM000665.1:g.38766804T>A	GRCh37
NC_000003.10:g.38741808T>A	NCBI36
NG_031891.2:g.73698A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449082.3:c.3089A>T MANE Select	ENSP00000390600.2:p.Gln1030Leu
ENST00000643924.1:c.3088-2A>T	ENSP00000495595.1:n.3088-2A>T
ENST00000655275.1:c.3115-2A>T	ENSP00000499510.1:n.3115-2A>T
ENST00000449082.2:c.3089A>T	ENSP00000390600.2:p.Gln1030Leu
NM_001293306.2:c.3088-2A>T	NP_001280235.2:n.3088-2A>T
NM_001293307.2:c.2795A>T	NP_001280236.2:p.Gln932Leu
NM_006514.3:c.3089A>T	NP_006505.3:p.Gln1030Leu
XM_005265371.2:c.3098A>T	XP_005265428.1:p.Gln1033Leu
XM_011533993.1:c.3097-2A>T	XP_011532295.1:n.3097-2A>T
XM_011533994.1:c.2804A>T	XP_011532296.1:p.Gln935Leu
XM_005265371.3:c.3098A>T	XP_005265428.1:p.Gln1033Leu
XM_011533993.2:c.3097-2A>T	XP_011532295.1:n.3097-2A>T
XM_011533994.2:c.2804A>T	XP_011532296.1:p.Gln935Leu
NM_006514.4:c.3089A>T MANE Select	NP_006505.4:p.Gln1030Leu