Canonical Allele Identifier: CA2881922
Gene: CCKAR HGNC NCBI

Linked Data

dbSNP Id: rs368292493
gnomAD v2: 4-26491739-A-G
gnomAD v3: 4-26490117-A-G
gnomAD v4: 4-26490117-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.26490117A>G , CM000666.2:g.26490117A>G GRCh38
NC_000004.11:g.26491739A>G , CM000666.1:g.26491739A>G GRCh37
NC_000004.10:g.26100837A>G NCBI36
NG_012053.1:g.5304T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000295589.4:c.112+39T>C MANE Select ENSP00000295589.3:n.112+39T>C
ENST00000295589.3:c.112+39T>C ENSP00000295589.3:n.112+39T>C
NM_000730.2:c.112+39T>C NP_000721.1:n.112+39T>C
NM_000730.3:c.112+39T>C MANE Select NP_000721.1:n.112+39T>C