Canonical Allele Identifier: CA415087874
Gene: CCNQ HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153592615C>A , CM000685.2:g.153592615C>A GRCh38
NC_000023.10:g.152858073C>A , CM000685.1:g.152858073C>A GRCh37
NC_000023.9:g.152511267C>A NCBI36
NG_008393.2:g.11563G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000576892.8:c.548G>T MANE Select ENSP00000461135.1:p.Cys183Phe
ENST00000429336.5:c.193+1932G>T
ENST00000440428.5:c.548G>T ENSP00000402949.2:p.Cys183Phe
ENST00000482182.3:c.422G>T ENSP00000466345.1:p.Cys141Phe
ENST00000576892.7:c.548G>T ENSP00000461135.1:p.Cys183Phe
ENST00000614850.1:c.277+3389G>T
ENST00000614851.4:c.369G>T
ENST00000620088.4:c.*424G>T ENSP00000484108.1:n.*424G>T
ENST00000621629.4:c.*424G>T ENSP00000478747.1:n.*424G>T
ENST00000621817.1:c.*713G>T ENSP00000481634.1:n.*713G>T
NM_001130997.2:c.548G>T NP_001124469.1:p.Cys183Phe
NM_152274.4:c.548G>T NP_689487.2:p.Cys183Phe
XM_005277920.3:c.518G>T XP_005277977.1:p.Cys173Phe
XM_005277921.3:c.518G>T XP_005277978.1:p.Cys173Phe
XM_011531213.1:c.422G>T XP_011529515.1:p.Cys141Phe
XM_011531214.1:c.422G>T XP_011529516.1:p.Cys141Phe
XM_011531215.1:c.422G>T XP_011529517.1:p.Cys141Phe
XM_005277920.4:c.518G>T XP_005277977.1:p.Cys173Phe
XM_005277921.4:c.518G>T XP_005277978.1:p.Cys173Phe
XM_011531214.2:c.422G>T XP_011529516.1:p.Cys141Phe
XM_011531215.2:c.422G>T XP_011529517.1:p.Cys141Phe
XR_002958810.1:n.2453G>T
NM_152274.5:c.548G>T MANE Select NP_689487.2:p.Cys183Phe
NM_001130997.3:c.548G>T NP_001124469.1:p.Cys183Phe