Canonical Allele Identifier: CA16607433

Gene: SCN4A

Linked Data

• ClinVar Variation Id: 381540
• ClinVar RCV Id: RCV000439261 ; RCV001861506
• dbSNP Id: rs1057521065
• gnomAD v2: 17-62045670-A-G
• gnomAD v3: 17-63968310-A-G
• gnomAD v4: 17-63968310-A-G
• MyVariant Identifiers: chr17:g.62045670A>G (hg19) ; chr17:g.63968310A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63968310A>G , CM000679.2:g.63968310A>G	GRCh38
NC_000017.10:g.62045670A>G , CM000679.1:g.62045670A>G	GRCh37
NC_000017.9:g.59399402A>G	NCBI36
NG_011699.1:g.9609T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000435607.3:c.749T>C MANE Select	ENSP00000396320.1:p.Leu250Pro
ENST00000578147.5:c.749T>C	ENSP00000463963.1:p.Leu250Pro
NM_000334.4:c.749T>C MANE Select	NP_000325.4:p.Leu250Pro
XM_005257566.3:c.749T>C	XP_005257623.1:p.Leu250Pro