Canonical Allele Identifier: CA16141330
Gene: CCK HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.42258378C>T
GRCh37 chr3:g.42299870C>T
gnomAD v2:
3:42299870 C / T
gnomAD v3:
3:42258378 C / T
gnomAD v4:
chr3-42258378-C-T
Joint Max Group AF 0.50778966 (EAS)
Genomes Max Group AF 0.50943237 (EAS)
Exomes Max Group AF 0.50539071 (EAS)
dbSNP:
8192472
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.42258378C>T , CM000665.2:g.42258378C>T GRCh38
NC_000003.11:g.42299870C>T , CM000665.1:g.42299870C>T GRCh37
NC_000003.10:g.42274874C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000396169.7:c.215-147G>A MANE Select ENSP00000379472.2:n.215-147G>A
ENST00000334681.9:c.215-147G>A ENSP00000335657.5:n.215-147G>A
ENST00000396169.6:c.215-147G>A ENSP00000379472.2:n.215-147G>A
ENST00000434608.1:c.215-147G>A ENSP00000409124.1:n.215-147G>A
NM_000729.4:c.215-147G>A NP_000720.1:n.215-147G>A
NM_001174138.1:c.215-147G>A NP_001167609.1:n.215-147G>A
NM_000729.5:c.215-147G>A NP_000720.1:n.215-147G>A
NM_001174138.2:c.215-147G>A NP_001167609.1:n.215-147G>A
NM_000729.6:c.215-147G>A MANE Select NP_000720.1:n.215-147G>A
NM_001174138.3:c.215-147G>A NP_001167609.1:n.215-147G>A
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