Canonical Allele Identifier: CA72959385

Gene: SCN10A

Linked Data

• dbSNP Id: rs535427130
• gnomAD v3: 3-38724978-T-A
• gnomAD v4: 3-38724978-T-A
• MyVariant Identifiers: chr3:g.38766469T>A (hg19) ; chr3:g.38724978T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38724978T>A , CM000665.2:g.38724978T>A	GRCh38
NC_000003.11:g.38766469T>A , CM000665.1:g.38766469T>A	GRCh37
NC_000003.10:g.38741473T>A	NCBI36
NG_031891.2:g.74033A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449082.3:c.3228+196A>T MANE Select	ENSP00000390600.2:n.3228+196A>T
ENST00000643924.1:c.3225+196A>T	ENSP00000495595.1:n.3225+196A>T
ENST00000655275.1:c.3252+196A>T	ENSP00000499510.1:n.3252+196A>T
ENST00000449082.2:c.3228+196A>T	ENSP00000390600.2:n.3228+196A>T
NM_001293306.2:c.3225+196A>T	NP_001280235.2:n.3225+196A>T
NM_001293307.2:c.2934+196A>T	NP_001280236.2:n.2934+196A>T
NM_006514.3:c.3228+196A>T	NP_006505.3:n.3228+196A>T
XM_005265371.2:c.3237+196A>T	XP_005265428.1:n.3237+196A>T
XM_011533993.1:c.3234+196A>T	XP_011532295.1:n.3234+196A>T
XM_011533994.1:c.2943+196A>T	XP_011532296.1:n.2943+196A>T
XM_005265371.3:c.3237+196A>T	XP_005265428.1:n.3237+196A>T
XM_011533993.2:c.3234+196A>T	XP_011532295.1:n.3234+196A>T
XM_011533994.2:c.2943+196A>T	XP_011532296.1:n.2943+196A>T
NM_006514.4:c.3228+196A>T MANE Select	NP_006505.4:n.3228+196A>T