Canonical Allele Identifier: CA10646417
Gene: SCN4A HGNC NCBI

Linked Data

ClinVar Variation Id: 324466
ClinVar RCV Id: RCV000263006 RCV000276627 RCV000297055 RCV000334031 RCV000354954
dbSNP Id: rs192346663
gnomAD v2: 17-62016059-C-T
gnomAD v3: 17-63938699-C-T
gnomAD v4: 17-63938699-C-T
MyVariant Identifiers: chr17:g.62016059C>T (hg19) chr17:g.63938699C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63938699C>T , CM000679.2:g.63938699C>T GRCh38
NC_000017.10:g.62016059C>T , CM000679.1:g.62016059C>T GRCh37
NC_000017.9:g.59369791C>T NCBI36
NG_011699.1:g.39220G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000435607.3:c.*2072G>A MANE Select ENSP00000396320.1:n.*2072G>A
ENST00000578147.5:c.*2072G>A ENSP00000463963.1:n.*2072G>A
NM_000334.4:c.*2072G>A MANE Select NP_000325.4:n.*2072G>A
XM_005257566.3:c.*2072G>A XP_005257623.1:n.*2072G>A
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