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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:
CA127245
Gene: CCKAR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
17529
ClinVar RCV Id:
RCV000019081
dbSNP Id:
rs104893833
ExAC:
4:26491829 C / G
gnomAD v2:
4-26491829-C-G
gnomAD v3:
4-26490207-C-G
gnomAD v4:
4-26490207-C-G
MyVariant Identifiers:
chr4:g.26491829C>G (hg19)
chr4:g.26490207C>G (hg38)
PubMed:
PMID:9192855
PMID:10333087
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.26490207C>G , CM000666.2:g.26490207C>G
GRCh38
NC_000004.11:g.26491829C>G , CM000666.1:g.26491829C>G
GRCh37
NC_000004.10:g.26100927C>G
NCBI36
NG_012053.1:g.5214G>C
Transcript Alleles
HGVS
Amino-acid change
ENST00000295589.4:c.61G>C
MANE Select
ENSP00000295589.3:p.Gly21Arg
ENST00000295589.3:c.61G>C
ENSP00000295589.3:p.Gly21Arg
NM_000730.2:c.61G>C
NP_000721.1:p.Gly21Arg
NM_000730.3:c.61G>C
MANE Select
NP_000721.1:p.Gly21Arg
Search 100 bp 5'
Search 100 bp 3'