Canonical Allele Identifier: CA1047001716

Gene: SCN10A

Linked Data

• dbSNP Id: rs2063437117
• gnomAD v3: 3-38725008-C-T
• gnomAD v4: 3-38725008-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38725008C>T , CM000665.2:g.38725008C>T	GRCh38
NC_000003.11:g.38766499C>T , CM000665.1:g.38766499C>T	GRCh37
NC_000003.10:g.38741503C>T	NCBI36
NG_031891.2:g.74003G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449082.3:c.3228+166G>A MANE Select	ENSP00000390600.2:n.3228+166G>A
ENST00000643924.1:c.3225+166G>A	ENSP00000495595.1:n.3225+166G>A
ENST00000655275.1:c.3252+166G>A	ENSP00000499510.1:n.3252+166G>A
ENST00000449082.2:c.3228+166G>A	ENSP00000390600.2:n.3228+166G>A
NM_001293306.2:c.3225+166G>A	NP_001280235.2:n.3225+166G>A
NM_001293307.2:c.2934+166G>A	NP_001280236.2:n.2934+166G>A
NM_006514.3:c.3228+166G>A	NP_006505.3:n.3228+166G>A
XM_005265371.2:c.3237+166G>A	XP_005265428.1:n.3237+166G>A
XM_011533993.1:c.3234+166G>A	XP_011532295.1:n.3234+166G>A
XM_011533994.1:c.2943+166G>A	XP_011532296.1:n.2943+166G>A
XM_005265371.3:c.3237+166G>A	XP_005265428.1:n.3237+166G>A
XM_011533993.2:c.3234+166G>A	XP_011532295.1:n.3234+166G>A
XM_011533994.2:c.2943+166G>A	XP_011532296.1:n.2943+166G>A
NM_006514.4:c.3228+166G>A MANE Select	NP_006505.4:n.3228+166G>A