Canonical Allele Identifier: CA985439473

Gene: SCN4A

Linked Data

• gnomAD v3: 17-63942297-A-ATGTG
• gnomAD v4: 17-63942297-A-ATGTG

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63942297_63942298insTGTG , CM000679.2:g.63942297_63942298insTGTG	GRCh38
NC_000017.10:g.62019657_62019658insTGTG , CM000679.1:g.62019657_62019658insTGTG	GRCh37
NC_000017.9:g.59373389_59373390insTGTG	NCBI36
NG_011699.1:g.35621_35622insCACA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435607.3:c.4289-305_4289-304insCACA MANE Select	ENSP00000396320.1:n.4289-305_4289-304insCACA
ENST00000578147.5:c.4289-305_4289-304insCACA	ENSP00000463963.1:n.4289-305_4289-304insCACA
NM_000334.4:c.4289-305_4289-304insCACA MANE Select	NP_000325.4:n.4289-305_4289-304insCACA
XM_005257566.3:c.4289-305_4289-304insCACA	XP_005257623.1:n.4289-305_4289-304insCACA