Canonical Allele Identifier: CA93702489
Gene: CCKAR HGNC NCBI

Linked Data

dbSNP Id: rs983759227
gnomAD v3: 4-26490046-C-T
gnomAD v4: 4-26490046-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.26490046C>T , CM000666.2:g.26490046C>T GRCh38
NC_000004.11:g.26491668C>T , CM000666.1:g.26491668C>T GRCh37
NC_000004.10:g.26100766C>T NCBI36
NG_012053.1:g.5375G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000295589.4:c.112+110G>A MANE Select ENSP00000295589.3:n.112+110G>A
ENST00000295589.3:c.112+110G>A ENSP00000295589.3:n.112+110G>A
NM_000730.2:c.112+110G>A NP_000721.1:n.112+110G>A
NM_000730.3:c.112+110G>A MANE Select NP_000721.1:n.112+110G>A