Canonical Allele Identifier: CA8709542

Gene: SCN4A

Linked Data

• ClinVar Variation Id: 324531
• ClinVar RCV Id: RCV000279770 ; RCV000299674 ; RCV000334804 ; RCV000358171 ; RCV000576326 ; RCV000489566 ; RCV000761997 ; RCV001084946 ; RCV004537818
• dbSNP Id: rs201148948
• ExAC: 17:62029014 G / A
• gnomAD v2: 17-62029014-G-A
• gnomAD v3: 17-63951654-G-A
• gnomAD v4: 17-63951654-G-A
• MyVariant Identifiers: chr17:g.62029014G>A (hg19) ; chr17:g.63951654G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63951654G>A , CM000679.2:g.63951654G>A	GRCh38
NC_000017.10:g.62029014G>A , CM000679.1:g.62029014G>A	GRCh37
NC_000017.9:g.59382746G>A	NCBI36
NG_011699.1:g.26265C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435607.3:c.2623C>T MANE Select	ENSP00000396320.1:p.Pro875Ser
ENST00000578147.5:c.2623C>T	ENSP00000463963.1:p.Pro875Ser
NM_000334.4:c.2623C>T MANE Select	NP_000325.4:p.Pro875Ser
XM_005257566.3:c.2623C>T	XP_005257623.1:p.Pro875Ser