Canonical Allele Identifier: CA127245
Gene: CCKAR HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.26490207C>G
GRCh37 chr4:g.26491829C>G
Revel Score:
ENST00000295589 (MANE Select) 0.085
gnomAD v2:
4:26491829 C / G
gnomAD v3:
4:26490207 C / G
gnomAD v4:
chr4-26490207-C-G
Joint Max Group AF 0.00433294 (AFR)
Genomes Max Group AF 0.00403009 (AFR)
Exomes Max Group AF 0.00434307 (AFR)
ClinVar RCV:
RCV000019081
ClinVar Variation:
17529
dbSNP:
104893833
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'