Canonical Allele Identifier: CA8708818

Gene: SCN4A

Linked Data

• ClinVar Variation Id: 324510
• ClinVar RCV Id: RCV000268020 ; RCV000298506 ; RCV000323138 ; RCV000353353 ; RCV001054673
• dbSNP Id: rs199944673
• ExAC: 17:62018437 C / G
• gnomAD v2: 17-62018437-C-G
• gnomAD v3: 17-63941077-C-G
• gnomAD v4: 17-63941077-C-G
• MyVariant Identifiers: chr17:g.62018437C>G (hg19) ; chr17:g.63941077C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63941077C>G , CM000679.2:g.63941077C>G	GRCh38
NC_000017.10:g.62018437C>G , CM000679.1:g.62018437C>G	GRCh37
NC_000017.9:g.59372169C>G	NCBI36
NG_011699.1:g.36842G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435607.3:c.5205G>C MANE Select	ENSP00000396320.1:p.Gln1735His
ENST00000578147.5:c.5205G>C	ENSP00000463963.1:p.Gln1735His
NM_000334.4:c.5205G>C MANE Select	NP_000325.4:p.Gln1735His
XM_005257566.3:c.5205G>C	XP_005257623.1:p.Gln1735His