Canonical Allele Identifier: CA13695623
Gene: CMKLR1 HGNC NCBI
COSMIC:
COSN17132933 (not active)
COSN17133771 (not active)
COSN17134603 (not active)
COSN17135525 (not active)
COSN17136406 (not active)
COSN17137340 (not active)
COSN17138302 (not active)
COSN17139211 (not active)
COSN17140956 (not active)
COSN17141996 (not active)
COSN17143213 (not active)
COSN17144015 (not active)
COSN17144982 (not active)
COSN17145865 (not active)
COSN17146767 (not active)
COSN17147667 (not active)
COSN17148537 (not active)
COSN17149448 (not active)
COSN17150363 (not active)
COSN17151308 (not active)
COSN17152339 (not active)
gnomAD v2:
12:108699032 C / T
gnomAD v3:
12:108305255 C / T
gnomAD v4:
chr12-108305255-C-T
Joint Max Group AF 0.82808018 (AFR)
Genomes Max Group AF 0.82808018 (AFR)
dbSNP:
1878022
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.108305255C>T , CM000674.2:g.108305255C>T GRCh38
NC_000012.11:g.108699032C>T , CM000674.1:g.108699032C>T GRCh37
NC_000012.10:g.107223162C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000550402.6:c.-73-11591G>A MANE Select ENSP00000449716.1:n.-73-11591G>A
ENST00000312143.11:c.-73-11591G>A ENSP00000311733.7:n.-73-11591G>A
ENST00000412676.5:c.-73-11591G>A ENSP00000401293.1:n.-73-11591G>A
ENST00000549466.1:c.-73-11591G>A ENSP00000448362.1:n.-73-11591G>A
ENST00000550402.5:c.-73-11591G>A ENSP00000449716.1:n.-73-11591G>A
ENST00000550573.5:c.-73-11591G>A ENSP00000448925.1:n.-73-11591G>A
ENST00000552995.5:c.-3-12296G>A ENSP00000447579.1:n.-3-12296G>A
NM_001142343.1:c.-73-11591G>A NP_001135815.1:n.-73-11591G>A
NM_001142344.1:c.-73-11591G>A NP_001135816.1:n.-73-11591G>A
NM_001142345.1:c.-73-11591G>A NP_001135817.1:n.-73-11591G>A
NM_004072.2:c.-3-12296G>A NP_004063.1:n.-3-12296G>A
XM_017018820.2:c.-3-12296G>A XP_016874309.1:n.-3-12296G>A
NM_001142343.2:c.-73-11591G>A MANE Select NP_001135815.1:n.-73-11591G>A
NM_001142344.2:c.-73-11591G>A NP_001135816.1:n.-73-11591G>A
NM_004072.3:c.-3-12296G>A NP_004063.1:n.-3-12296G>A
NM_001142345.2:c.-73-11591G>A NP_001135817.1:n.-73-11591G>A
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