Canonical Allele Identifier: CA2881914
Gene: CCKAR HGNC NCBI
COSMIC:
COSM4415043 (not active)
MyVariant.info:
GRCh38 chr4:g.26489489A>G
GRCh37 chr4:g.26491111A>G
gnomAD v2:
4:26491111 A / G
gnomAD v3:
4:26489489 A / G
gnomAD v4:
chr4-26489489-A-G
Joint Max Group AF 0.29274863 (SAS)
Genomes Max Group AF 0.29294566 (SAS)
Exomes Max Group AF 0.29209917 (SAS)
dbSNP:
1800857
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.26489489A>G , CM000666.2:g.26489489A>G GRCh38
NC_000004.11:g.26491111A>G , CM000666.1:g.26491111A>G GRCh37
NC_000004.10:g.26100209A>G NCBI36
NG_012053.1:g.5932T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000295589.4:c.113-5T>C MANE Select ENSP00000295589.3:n.113-5T>C
ENST00000295589.3:c.113-5T>C ENSP00000295589.3:n.113-5T>C
NM_000730.2:c.113-5T>C NP_000721.1:n.113-5T>C
NM_000730.3:c.113-5T>C MANE Select NP_000721.1:n.113-5T>C
Search 100 bp 5'
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