Canonical Allele Identifier: CA8708885

Gene: SCN4A

Linked Data

• ClinVar Variation Id: 324512
• ClinVar RCV Id: RCV000265921 ; RCV000305878 ; RCV000336274 ; RCV000360583 ; RCV000402814 ; RCV000654673
• dbSNP Id: rs202102815
• ExAC: 17:62018756 G / A
• gnomAD v2: 17-62018756-G-A
• gnomAD v3: 17-63941396-G-A
• gnomAD v4: 17-63941396-G-A
• MyVariant Identifiers: chr17:g.62018756G>A (hg19) ; chr17:g.63941396G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63941396G>A , CM000679.2:g.63941396G>A	GRCh38
NC_000017.10:g.62018756G>A , CM000679.1:g.62018756G>A	GRCh37
NC_000017.9:g.59372488G>A	NCBI36
NG_011699.1:g.36523C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435607.3:c.4886C>T MANE Select	ENSP00000396320.1:p.Pro1629Leu
ENST00000578147.5:c.4886C>T	ENSP00000463963.1:p.Pro1629Leu
NM_000334.4:c.4886C>T MANE Select	NP_000325.4:p.Pro1629Leu
XM_005257566.3:c.4886C>T	XP_005257623.1:p.Pro1629Leu