Canonical Allele Identifier: CA2670266544
Gene: CCKAR HGNC NCBI

Linked Data

gnomAD v4: 4-26490086-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.26490086C>T , CM000666.2:g.26490086C>T GRCh38
NC_000004.11:g.26491708C>T , CM000666.1:g.26491708C>T GRCh37
NC_000004.10:g.26100806C>T NCBI36
NG_012053.1:g.5335G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000295589.4:c.112+70G>A MANE Select ENSP00000295589.3:n.112+70G>A
ENST00000295589.3:c.112+70G>A ENSP00000295589.3:n.112+70G>A
NM_000730.2:c.112+70G>A NP_000721.1:n.112+70G>A
NM_000730.3:c.112+70G>A MANE Select NP_000721.1:n.112+70G>A