Canonical Allele Identifier: CA1047011756

Gene: SCN10A

Linked Data

• dbSNP Id: rs2063820269
• gnomAD v3: 3-38757353-CT-C
• gnomAD v4: 3-38757353-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38757356del , CM000665.2:g.38757356del	GRCh38
NC_000003.11:g.38798847del , CM000665.1:g.38798847del	GRCh37
NC_000003.10:g.38773851del	NCBI36
NG_031891.2:g.41657del

Transcript Alleles

HGVS	Amino-acid change
ENST00000449082.3:c.951-195del MANE Select	ENSP00000390600.2:n.951-195del
ENST00000643924.1:c.951-195del	ENSP00000495595.1:n.951-195del
ENST00000655275.1:c.978-195del	ENSP00000499510.1:n.978-195del
ENST00000449082.2:c.951-195del	ENSP00000390600.2:n.951-195del
NM_001293306.2:c.951-195del	NP_001280235.2:n.951-195del
NM_001293307.2:c.951-195del	NP_001280236.2:n.951-195del
NM_006514.3:c.951-195del	NP_006505.3:n.951-195del
XM_005265371.2:c.960-195del	XP_005265428.1:n.960-195del
XM_011533993.1:c.960-195del	XP_011532295.1:n.960-195del
XM_011533994.1:c.960-195del	XP_011532296.1:n.960-195del
XM_005265371.3:c.960-195del	XP_005265428.1:n.960-195del
XM_011533993.2:c.960-195del	XP_011532295.1:n.960-195del
XM_011533994.2:c.960-195del	XP_011532296.1:n.960-195del
NM_006514.4:c.951-195del MANE Select	NP_006505.4:n.951-195del