Canonical Allele Identifier: CA10646438
Gene: SCN4A HGNC NCBI

Linked Data

ClinVar Variation Id: 324500
ClinVar RCV Id: RCV000262443 RCV000316437 RCV000319845 RCV000373418 RCV000385914
dbSNP Id: rs545908155
gnomAD v2: 17-62017827-C-T
gnomAD v3: 17-63940467-C-T
gnomAD v4: 17-63940467-C-T
MyVariant Identifiers: chr17:g.62017827C>T (hg19) chr17:g.63940467C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63940467C>T , CM000679.2:g.63940467C>T GRCh38
NC_000017.10:g.62017827C>T , CM000679.1:g.62017827C>T GRCh37
NC_000017.9:g.59371559C>T NCBI36
NG_011699.1:g.37452G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000435607.3:c.*304G>A MANE Select ENSP00000396320.1:n.*304G>A
ENST00000578147.5:c.*304G>A ENSP00000463963.1:n.*304G>A
NM_000334.4:c.*304G>A MANE Select NP_000325.4:n.*304G>A
XM_005257566.3:c.*304G>A XP_005257623.1:n.*304G>A
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