Canonical Allele Identifier: CA2670266567
Gene: CCKAR HGNC NCBI

Linked Data

gnomAD v4: 4-26490113-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.26490113C>G , CM000666.2:g.26490113C>G GRCh38
NC_000004.11:g.26491735C>G , CM000666.1:g.26491735C>G GRCh37
NC_000004.10:g.26100833C>G NCBI36
NG_012053.1:g.5308G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000295589.4:c.112+43G>C MANE Select ENSP00000295589.3:n.112+43G>C
ENST00000295589.3:c.112+43G>C ENSP00000295589.3:n.112+43G>C
NM_000730.2:c.112+43G>C NP_000721.1:n.112+43G>C
NM_000730.3:c.112+43G>C MANE Select NP_000721.1:n.112+43G>C
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