Canonical Allele Identifier: CA2578103148
Gene: CCKAR HGNC NCBI

Linked Data

gnomAD v4: 4-26490120-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.26490120G>T , CM000666.2:g.26490120G>T GRCh38
NC_000004.11:g.26491742G>T , CM000666.1:g.26491742G>T GRCh37
NC_000004.10:g.26100840G>T NCBI36
NG_012053.1:g.5301C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000295589.4:c.112+36C>A MANE Select ENSP00000295589.3:n.112+36C>A
ENST00000295589.3:c.112+36C>A ENSP00000295589.3:n.112+36C>A
NM_000730.2:c.112+36C>A NP_000721.1:n.112+36C>A
NM_000730.3:c.112+36C>A MANE Select NP_000721.1:n.112+36C>A