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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:
CA117835
Gene: SCN4A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
5898
ClinVar RCV Id:
RCV001813736
dbSNP Id:
rs121908544
gnomAD v4:
17-63941940-G-A
MyVariant Identifiers:
chr17:g.62019300G>A (hg19)
chr17:g.63941940G>A (hg38)
PubMed:
PMID:1316765
PMID:8005599
PMID:12483017
PMID:12552059
PMID:16801039
PMID:18033047
PMID:18166706
PMID:20301669
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.63941940G>A , CM000679.2:g.63941940G>A
GRCh38
NC_000017.10:g.62019300G>A , CM000679.1:g.62019300G>A
GRCh37
NC_000017.9:g.59373032G>A
NCBI36
NG_011699.1:g.35979C>T
Transcript Alleles
HGVS
Amino-acid change
ENST00000435607.3:c.4342C>T
MANE Select
ENSP00000396320.1:p.Arg1448Cys
ENST00000578147.5:c.4342C>T
ENSP00000463963.1:p.Arg1448Cys
NM_000334.4:c.4342C>T
MANE Select
NP_000325.4:p.Arg1448Cys
XM_005257566.3:c.4342C>T
XP_005257623.1:p.Arg1448Cys
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