Canonical Allele Identifier: CA985439385

Gene: SCN4A

Linked Data

• gnomAD v3: 17-63942258-G-GTGT
• gnomAD v4: 17-63942258-G-GTGT

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63942258_63942259insTGT , CM000679.2:g.63942258_63942259insTGT	GRCh38
NC_000017.10:g.62019618_62019619insTGT , CM000679.1:g.62019618_62019619insTGT	GRCh37
NC_000017.9:g.59373350_59373351insTGT	NCBI36
NG_011699.1:g.35660_35661insACA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435607.3:c.4289-266_4289-265insACA MANE Select	ENSP00000396320.1:n.4289-266_4289-265insACA
ENST00000578147.5:c.4289-266_4289-265insACA	ENSP00000463963.1:n.4289-266_4289-265insACA
NM_000334.4:c.4289-266_4289-265insACA MANE Select	NP_000325.4:n.4289-266_4289-265insACA
XM_005257566.3:c.4289-266_4289-265insACA	XP_005257623.1:n.4289-266_4289-265insACA