Canonical Allele Identifier: CA415087464
Gene: CCNQ HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153592552C>G , CM000685.2:g.153592552C>G GRCh38
NC_000023.10:g.152858010C>G , CM000685.1:g.152858010C>G GRCh37
NC_000023.9:g.152511204C>G NCBI36
NG_008393.2:g.11626G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000576892.8:c.611G>C MANE Select ENSP00000461135.1:p.Gly204Ala
ENST00000429336.5:c.193+1995G>C
ENST00000440428.5:c.611G>C ENSP00000402949.2:p.Gly204Ala
ENST00000576892.7:c.611G>C ENSP00000461135.1:p.Gly204Ala
ENST00000614850.1:c.277+3452G>C
ENST00000614851.4:c.432G>C
ENST00000620088.4:c.*487G>C ENSP00000484108.1:n.*487G>C
ENST00000621629.4:c.*487G>C ENSP00000478747.1:n.*487G>C
NM_001130997.2:c.611G>C NP_001124469.1:p.Gly204Ala
NM_152274.4:c.611G>C NP_689487.2:p.Gly204Ala
XM_005277920.3:c.581G>C XP_005277977.1:p.Gly194Ala
XM_005277921.3:c.581G>C XP_005277978.1:p.Gly194Ala
XM_011531213.1:c.485G>C XP_011529515.1:p.Gly162Ala
XM_011531214.1:c.485G>C XP_011529516.1:p.Gly162Ala
XM_011531215.1:c.485G>C XP_011529517.1:p.Gly162Ala
XM_005277920.4:c.581G>C XP_005277977.1:p.Gly194Ala
XM_005277921.4:c.581G>C XP_005277978.1:p.Gly194Ala
XM_011531214.2:c.485G>C XP_011529516.1:p.Gly162Ala
XM_011531215.2:c.485G>C XP_011529517.1:p.Gly162Ala
XR_002958810.1:n.2516G>C
NM_152274.5:c.611G>C MANE Select NP_689487.2:p.Gly204Ala
NM_001130997.3:c.611G>C NP_001124469.1:p.Gly204Ala