Canonical Allele Identifier: CA8709850

Gene: SCN4A

Linked Data

• ClinVar Variation Id: 324542
• ClinVar RCV Id: RCV000317450 ; RCV000333024 ; RCV000374441 ; RCV000389415 ; RCV000839298 ; RCV001080681
• dbSNP Id: rs527384137
• ExAC: 17:62041867 C / T
• gnomAD v2: 17-62041867-C-T
• gnomAD v3: 17-63964507-C-T
• gnomAD v4: 17-63964507-C-T
• COSMIC: COSM4579984
• MyVariant Identifiers: chr17:g.62041867C>T (hg19) ; chr17:g.63964507C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63964507C>T , CM000679.2:g.63964507C>T	GRCh38
NC_000017.10:g.62041867C>T , CM000679.1:g.62041867C>T	GRCh37
NC_000017.9:g.59395599C>T	NCBI36
NG_011699.1:g.13412G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435607.3:c.1413G>A MANE Select	ENSP00000396320.1:p.Met471Ile
ENST00000578147.5:c.1413G>A	ENSP00000463963.1:p.Met471Ile
NM_000334.4:c.1413G>A MANE Select	NP_000325.4:p.Met471Ile
XM_005257566.3:c.1413G>A	XP_005257623.1:p.Met471Ile
XR_934910.1:n.175-42C>T
XR_001752969.1:n.1452-42C>T
XR_001752970.1:n.404-42C>T
XR_934910.2:n.1327-42C>T