Canonical Allele Identifier: CA8709048

Gene: SCN4A

Linked Data

• ClinVar Variation Id: 255853
• ClinVar RCV Id: RCV000244648 ; RCV000269326 ; RCV000277723 ; RCV000326699 ; RCV000330459 ; RCV000388217
• dbSNP Id: rs375607705
• ExAC: 17:62020349 G / A
• gnomAD v2: 17-62020349-G-A
• gnomAD v3: 17-63942989-G-A
• gnomAD v4: 17-63942989-G-A
• MyVariant Identifiers: chr17:g.62020349G>A (hg19) ; chr17:g.63942989G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63942989G>A , CM000679.2:g.63942989G>A	GRCh38
NC_000017.10:g.62020349G>A , CM000679.1:g.62020349G>A	GRCh37
NC_000017.9:g.59374081G>A	NCBI36
NG_011699.1:g.34930C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435607.3:c.4125C>T MANE Select	ENSP00000396320.1:p.Asp1375=
ENST00000578147.5:c.4125C>T	ENSP00000463963.1:p.Asp1375=
NM_000334.4:c.4125C>T MANE Select	NP_000325.4:p.Asp1375=
XM_005257566.3:c.4125C>T	XP_005257623.1:p.Asp1375=