Canonical Allele Identifier: CA127245

Gene: CCKAR

Linked Data

• dbSNP Id: rs104893833
• ExAC: 4:26491829 C / G
• gnomAD v2: 4-26491829-C-G
• gnomAD v3: 4-26490207-C-G
• gnomAD v4: 4-26490207-C-G
• MyVariant Identifiers: chr4:g.26491829C>G (hg19) ; chr4:g.26490207C>G (hg38)
• PubMed: PMID:9192855 ; PMID:10333087

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