Canonical Allele Identifier: CA10646416
Gene: SCN4A HGNC NCBI

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)
JSON-LD

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
Search 100 bp 5'
Search 100 bp 3'