Canonical Allele Identifier: CA8709215

Gene: SCN4A

Linked Data

• ClinVar Variation Id: 2777273
• ClinVar RCV Id: RCV003615971
• dbSNP Id: rs770493707
• ExAC: 17:62022791 G / T
• gnomAD v2: 17-62022791-G-T
• gnomAD v3: 17-63945431-G-T
• gnomAD v4: 17-63945431-G-T
• MyVariant Identifiers: chr17:g.62022791G>T (hg19) ; chr17:g.63945431G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63945431G>T , CM000679.2:g.63945431G>T	GRCh38
NC_000017.10:g.62022791G>T , CM000679.1:g.62022791G>T	GRCh37
NC_000017.9:g.59376523G>T	NCBI36
NG_011699.1:g.32488C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435607.3:c.3649C>A MANE Select	ENSP00000396320.1:p.Gln1217Lys
ENST00000578147.5:c.3649C>A	ENSP00000463963.1:p.Gln1217Lys
NM_000334.4:c.3649C>A MANE Select	NP_000325.4:p.Gln1217Lys
XM_005257566.3:c.3649C>A	XP_005257623.1:p.Gln1217Lys