Canonical Allele Identifier: CA2881920
Gene: CCKAR HGNC NCBI

Linked Data

dbSNP Id: rs200910008
gnomAD v2: 4-26491732-C-G
gnomAD v3: 4-26490110-C-G
gnomAD v4: 4-26490110-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.26490110C>G , CM000666.2:g.26490110C>G GRCh38
NC_000004.11:g.26491732C>G , CM000666.1:g.26491732C>G GRCh37
NC_000004.10:g.26100830C>G NCBI36
NG_012053.1:g.5311G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000295589.4:c.112+46G>C MANE Select ENSP00000295589.3:n.112+46G>C
ENST00000295589.3:c.112+46G>C ENSP00000295589.3:n.112+46G>C
NM_000730.2:c.112+46G>C NP_000721.1:n.112+46G>C
NM_000730.3:c.112+46G>C MANE Select NP_000721.1:n.112+46G>C