Canonical Allele Identifier: CA8708952

Gene: SCN4A

Linked Data

• ClinVar Variation Id: 426715
• ClinVar RCV Id: RCV000489860 ; RCV002526030 ; RCV002481556
• dbSNP Id: rs762311521
• ExAC: 17:62019125 T / A
• gnomAD v2: 17-62019125-T-A
• gnomAD v3: 17-63941765-T-A
• gnomAD v4: 17-63941765-T-A
• MyVariant Identifiers: chr17:g.62019125T>A (hg19) ; chr17:g.63941765T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63941765T>A , CM000679.2:g.63941765T>A	GRCh38
NC_000017.10:g.62019125T>A , CM000679.1:g.62019125T>A	GRCh37
NC_000017.9:g.59372857T>A	NCBI36
NG_011699.1:g.36154A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435607.3:c.4517A>T MANE Select	ENSP00000396320.1:p.Tyr1506Phe
ENST00000578147.5:c.4517A>T	ENSP00000463963.1:p.Tyr1506Phe
NM_000334.4:c.4517A>T MANE Select	NP_000325.4:p.Tyr1506Phe
XM_005257566.3:c.4517A>T	XP_005257623.1:p.Tyr1506Phe