Canonical Allele Identifier: CA2515055149
Gene: CCKAR HGNC NCBI

Linked Data

gnomAD v4: 4-26490127-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.26490127G>A , CM000666.2:g.26490127G>A GRCh38
NC_000004.11:g.26491749G>A , CM000666.1:g.26491749G>A GRCh37
NC_000004.10:g.26100847G>A NCBI36
NG_012053.1:g.5294C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000295589.4:c.112+29C>T MANE Select ENSP00000295589.3:n.112+29C>T
ENST00000295589.3:c.112+29C>T ENSP00000295589.3:n.112+29C>T
NM_000730.2:c.112+29C>T NP_000721.1:n.112+29C>T
NM_000730.3:c.112+29C>T MANE Select NP_000721.1:n.112+29C>T