Canonical Allele Identifier: CA8709008

Gene: SCN4A

Linked Data

• dbSNP Id: rs527786477
• ExAC: 17:62019400 G / A
• gnomAD v2: 17-62019400-G-A
• gnomAD v3: 17-63942040-G-A
• gnomAD v4: 17-63942040-G-A
• MyVariant Identifiers: chr17:g.62019400G>A (hg19) ; chr17:g.63942040G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63942040G>A , CM000679.2:g.63942040G>A	GRCh38
NC_000017.10:g.62019400G>A , CM000679.1:g.62019400G>A	GRCh37
NC_000017.9:g.59373132G>A	NCBI36
NG_011699.1:g.35879C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435607.3:c.4289-47C>T MANE Select	ENSP00000396320.1:n.4289-47C>T
ENST00000578147.5:c.4289-47C>T	ENSP00000463963.1:n.4289-47C>T
NM_000334.4:c.4289-47C>T MANE Select	NP_000325.4:n.4289-47C>T
XM_005257566.3:c.4289-47C>T	XP_005257623.1:n.4289-47C>T