Canonical Allele Identifier: CA550321096
Gene: CCKAR HGNC NCBI

Linked Data

dbSNP Id: rs1454526779
gnomAD v2: 4-26491744-T-G
gnomAD v4: 4-26490122-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.26490122T>G , CM000666.2:g.26490122T>G GRCh38
NC_000004.11:g.26491744T>G , CM000666.1:g.26491744T>G GRCh37
NC_000004.10:g.26100842T>G NCBI36
NG_012053.1:g.5299A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000295589.4:c.112+34A>C MANE Select ENSP00000295589.3:n.112+34A>C
ENST00000295589.3:c.112+34A>C ENSP00000295589.3:n.112+34A>C
NM_000730.2:c.112+34A>C NP_000721.1:n.112+34A>C
NM_000730.3:c.112+34A>C MANE Select NP_000721.1:n.112+34A>C