Canonical Allele Identifier: CA10646423

Gene: SCN4A

Linked Data

• ClinVar Variation Id: 324468
• ClinVar RCV Id: RCV000287406 ; RCV000340051 ; RCV000345840 ; RCV000379487 ; RCV000404263
• dbSNP Id: rs139537251
• gnomAD v2: 17-62016215-G-A
• gnomAD v3: 17-63938855-G-A
• gnomAD v4: 17-63938855-G-A
• MyVariant Identifiers: chr17:g.62016215G>A (hg19) ; chr17:g.63938855G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63938855G>A , CM000679.2:g.63938855G>A	GRCh38
NC_000017.10:g.62016215G>A , CM000679.1:g.62016215G>A	GRCh37
NC_000017.9:g.59369947G>A	NCBI36
NG_011699.1:g.39064C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435607.3:c.*1916C>T MANE Select	ENSP00000396320.1:n.*1916C>T
ENST00000578147.5:c.*1916C>T	ENSP00000463963.1:n.*1916C>T
NM_000334.4:c.*1916C>T MANE Select	NP_000325.4:n.*1916C>T
XM_005257566.3:c.*1916C>T	XP_005257623.1:n.*1916C>T