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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:
CA345720
Gene: SCN4A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
143201
ClinVar RCV Id:
RCV000132737
RCV000254971
RCV000797599
RCV002305449
dbSNP Id:
rs527236150
gnomAD v2:
17-62024442-C-T
gnomAD v4:
17-63947082-C-T
COSMIC:
COSM5732313
MyVariant Identifiers:
chr17:g.62024442C>T (hg19)
chr17:g.63947082C>T (hg38)
PubMed:
PMID:20301512
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.63947082C>T , CM000679.2:g.63947082C>T
GRCh38
NC_000017.10:g.62024442C>T , CM000679.1:g.62024442C>T
GRCh37
NC_000017.9:g.59378174C>T
NCBI36
NG_011699.1:g.30837G>A
Transcript Alleles
HGVS
Amino-acid Change
ENST00000435607.3:c.3404G>A
MANE Select
ENSP00000396320.1:p.Arg1135His
ENST00000578147.5:c.3404G>A
ENSP00000463963.1:p.Arg1135His
NM_000334.4:c.3404G>A
MANE Select
NP_000325.4:p.Arg1135His
XM_005257566.3:c.3404G>A
XP_005257623.1:p.Arg1135His
Search 100 bp 5'
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