Canonical Allele Identifier: CA127247
Gene: CCKAR HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.26481832C>T
GRCh37 chr4:g.26483454C>T
Revel Score:
ENST00000295589 (MANE Select) 0.235
gnomAD v2:
4:26483454 C / T
gnomAD v3:
4:26481832 C / T
gnomAD v4:
chr4-26481832-C-T
Joint Max Group AF 0.02193253 (AFR)
Genomes Max Group AF 0.02233109 (AFR)
Exomes Max Group AF 0.02062069 (AFR)
ClinVar RCV:
RCV000019082
ClinVar Variation:
17530
dbSNP:
52795588
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.26481832C>T , CM000666.2:g.26481832C>T GRCh38
NC_000004.11:g.26483454C>T , CM000666.1:g.26483454C>T GRCh37
NC_000004.10:g.26092552C>T NCBI36
NG_012053.1:g.13589G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000295589.4:c.1093G>A MANE Select ENSP00000295589.3:p.Val365Ile
ENST00000295589.3:c.1093G>A ENSP00000295589.3:p.Val365Ile
NM_000730.2:c.1093G>A NP_000721.1:p.Val365Ile
NM_000730.3:c.1093G>A MANE Select NP_000721.1:p.Val365Ile
Search 100 bp 5'
Search 100 bp 3'