Canonical Allele Identifier: CA11530039
Gene: CCK HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.42264802A>G
GRCh37 chr3:g.42306294A>G
gnomAD v2:
3:42306294 A / G
gnomAD v3:
3:42264802 A / G
gnomAD v4:
chr3-42264802-A-G
Joint Max Group AF 0.88261012 (NFE)
Genomes Max Group AF 0.88272201 (NFE)
Exomes Max Group AF 0.67739727 (NFE)
dbSNP:
1799923
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.42264802A>G , CM000665.2:g.42264802A>G GRCh38
NC_000003.11:g.42306294A>G , CM000665.1:g.42306294A>G GRCh37
NC_000003.10:g.42281298A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000396169.7:c.-108T>C MANE Select ENSP00000379472.2:n.-108T>C
ENST00000334681.9:c.-108T>C ENSP00000335657.5:n.-108T>C
ENST00000396169.6:c.-108T>C ENSP00000379472.2:n.-108T>C
NM_000729.4:c.-108T>C NP_000720.1:n.-108T>C
NM_000729.5:c.-108T>C NP_000720.1:n.-108T>C
NM_000729.6:c.-108T>C MANE Select NP_000720.1:n.-108T>C
Search 100 bp 5'
Search 100 bp 3'