Canonical Allele Identifier: CA240235

Gene: SCN4A

Linked Data

• ClinVar Variation Id: 194331
• ClinVar RCV Id: RCV000283764 ; RCV000308305 ; RCV000344721 ; RCV000401155 ; RCV000724875 ; RCV001089198 ; RCV004539619
• dbSNP Id: rs371914255
• ExAC: 17:62029159 G / A
• gnomAD v2: 17-62029159-G-A
• gnomAD v3: 17-63951799-G-A
• gnomAD v4: 17-63951799-G-A
• COSMIC: COSM3773007
• MyVariant Identifiers: chr17:g.62029159G>A (hg19) ; chr17:g.63951799G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63951799G>A , CM000679.2:g.63951799G>A	GRCh38
NC_000017.10:g.62029159G>A , CM000679.1:g.62029159G>A	GRCh37
NC_000017.9:g.59382891G>A	NCBI36
NG_011699.1:g.26120C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435607.3:c.2478C>T MANE Select	ENSP00000396320.1:p.Ile826=
ENST00000578147.5:c.2478C>T	ENSP00000463963.1:p.Ile826=
NM_000334.4:c.2478C>T MANE Select	NP_000325.4:p.Ile826=
XM_005257566.3:c.2478C>T	XP_005257623.1:p.Ile826=