Canonical Allele Identifier: CA10646416

Gene: SCN4A

Linked Data

• ClinVar Variation Id: 324464
• ClinVar RCV Id: RCV000291323 ; RCV000343978 ; RCV000349739 ; RCV000383271 ; RCV000402544
• dbSNP Id: rs191754378
• gnomAD v3: 17-63938602-G-C
• gnomAD v4: 17-63938602-G-C
• MyVariant Identifiers: chr17:g.62015962G>C (hg19) ; chr17:g.63938602G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63938602G>C , CM000679.2:g.63938602G>C	GRCh38
NC_000017.10:g.62015962G>C , CM000679.1:g.62015962G>C	GRCh37
NC_000017.9:g.59369694G>C	NCBI36
NG_011699.1:g.39317C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435607.3:c.*2169C>G MANE Select	ENSP00000396320.1:n.*2169C>G
ENST00000578147.5:c.*2169C>G	ENSP00000463963.1:n.*2169C>G
NM_000334.4:c.*2169C>G MANE Select	NP_000325.4:n.*2169C>G
XM_005257566.3:c.*2169C>G	XP_005257623.1:n.*2169C>G