Canonical Allele Identifier: CA2639311437

Gene: SCN4A

Linked Data

• gnomAD v4: 17-63945298-G-GT

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63945298_63945299insT , CM000679.2:g.63945298_63945299insT	GRCh38
NC_000017.10:g.62022658_62022659insT , CM000679.1:g.62022658_62022659insT	GRCh37
NC_000017.9:g.59376390_59376391insT	NCBI36
NG_011699.1:g.32620_32621insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435607.3:c.3720+61_3720+62insA MANE Select	ENSP00000396320.1:n.3720+61_3720+62insA
ENST00000578147.5:c.3720+61_3720+62insA	ENSP00000463963.1:n.3720+61_3720+62insA
NM_000334.4:c.3720+61_3720+62insA MANE Select	NP_000325.4:n.3720+61_3720+62insA
XM_005257566.3:c.3720+61_3720+62insA	XP_005257623.1:n.3720+61_3720+62insA