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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:
CA8709639
Gene: SCN4A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
957814
ClinVar RCV Id:
RCV001230867
RCV002272422
dbSNP Id:
rs753865616
ExAC:
17:62034700 A / G
gnomAD v2:
17-62034700-A-G
gnomAD v3:
17-63957340-A-G
gnomAD v4:
17-63957340-A-G
MyVariant Identifiers:
chr17:g.62034700A>G (hg19)
chr17:g.63957340A>G (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.63957340A>G , CM000679.2:g.63957340A>G
GRCh38
NC_000017.10:g.62034700A>G , CM000679.1:g.62034700A>G
GRCh37
NC_000017.9:g.59388432A>G
NCBI36
NG_011699.1:g.20579T>C
Transcript Alleles
HGVS
Amino-acid change
ENST00000435607.3:c.2198T>C
MANE Select
ENSP00000396320.1:p.Ile733Thr
ENST00000578147.5:c.2198T>C
ENSP00000463963.1:p.Ile733Thr
NM_000334.4:c.2198T>C
MANE Select
NP_000325.4:p.Ile733Thr
XM_005257566.3:c.2198T>C
XP_005257623.1:p.Ile733Thr
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