Canonical Allele Identifier: CA8708910

Gene: SCN4A

Linked Data

• ClinVar Variation Id: 324514
• ClinVar RCV Id: RCV000286107 ; RCV000335223 ; RCV000374780 ; RCV000408219 ; RCV000534953 ; RCV002522999 ; RCV003137924
• dbSNP Id: rs772552529
• ExAC: 17:62018931 G / A
• gnomAD v2: 17-62018931-G-A
• gnomAD v3: 17-63941571-G-A
• gnomAD v4: 17-63941571-G-A
• MyVariant Identifiers: chr17:g.62018931G>A (hg19) ; chr17:g.63941571G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63941571G>A , CM000679.2:g.63941571G>A	GRCh38
NC_000017.10:g.62018931G>A , CM000679.1:g.62018931G>A	GRCh37
NC_000017.9:g.59372663G>A	NCBI36
NG_011699.1:g.36348C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435607.3:c.4711C>T MANE Select	ENSP00000396320.1:p.Pro1571Ser
ENST00000578147.5:c.4711C>T	ENSP00000463963.1:p.Pro1571Ser
NM_000334.4:c.4711C>T MANE Select	NP_000325.4:p.Pro1571Ser
XM_005257566.3:c.4711C>T	XP_005257623.1:p.Pro1571Ser