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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA117833
Gene: SCN4A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
5896
ClinVar RCV Id:
RCV000006254
RCV000006255
RCV000255373
RCV000763020
dbSNP Id:
rs80338957
gnomAD v3:
17-63957427-G-A
gnomAD v4:
17-63957427-G-A
COSMIC:
COSM982797
MyVariant Identifiers:
chr17:g.62034787G>A (hg19)
chr17:g.63957427G>A (hg38)
PubMed:
PMID:1659948
PMID:8985730
PMID:11309455
PMID:12933953
PMID:15534250
PMID:15642860
PMID:20301669
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.63957427G>A , CM000679.2:g.63957427G>A
GRCh38
NC_000017.10:g.62034787G>A , CM000679.1:g.62034787G>A
GRCh37
NC_000017.9:g.59388519G>A
NCBI36
NG_011699.1:g.20492C>T
Transcript Alleles
HGVS
Amino-acid change
ENST00000435607.3:c.2111C>T
MANE Select
ENSP00000396320.1:p.Thr704Met
ENST00000578147.5:c.2111C>T
ENSP00000463963.1:p.Thr704Met
NM_000334.4:c.2111C>T
MANE Select
NP_000325.4:p.Thr704Met
XM_005257566.3:c.2111C>T
XP_005257623.1:p.Thr704Met
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