Canonical Allele Identifier: CA415087491
Gene: CCNQ HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153592556A>G , CM000685.2:g.153592556A>G GRCh38
NC_000023.10:g.152858014A>G , CM000685.1:g.152858014A>G GRCh37
NC_000023.9:g.152511208A>G NCBI36
NG_008393.2:g.11622T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000576892.8:c.607T>C MANE Select ENSP00000461135.1:p.Tyr203His
ENST00000429336.5:c.193+1991T>C
ENST00000440428.5:c.607T>C ENSP00000402949.2:p.Tyr203His
ENST00000576892.7:c.607T>C ENSP00000461135.1:p.Tyr203His
ENST00000614850.1:c.277+3448T>C
ENST00000614851.4:c.428T>C
ENST00000620088.4:c.*483T>C ENSP00000484108.1:n.*483T>C
ENST00000621629.4:c.*483T>C ENSP00000478747.1:n.*483T>C
NM_001130997.2:c.607T>C NP_001124469.1:p.Tyr203His
NM_152274.4:c.607T>C NP_689487.2:p.Tyr203His
XM_005277920.3:c.577T>C XP_005277977.1:p.Tyr193His
XM_005277921.3:c.577T>C XP_005277978.1:p.Tyr193His
XM_011531213.1:c.481T>C XP_011529515.1:p.Tyr161His
XM_011531214.1:c.481T>C XP_011529516.1:p.Tyr161His
XM_011531215.1:c.481T>C XP_011529517.1:p.Tyr161His
XM_005277920.4:c.577T>C XP_005277977.1:p.Tyr193His
XM_005277921.4:c.577T>C XP_005277978.1:p.Tyr193His
XM_011531214.2:c.481T>C XP_011529516.1:p.Tyr161His
XM_011531215.2:c.481T>C XP_011529517.1:p.Tyr161His
XR_002958810.1:n.2512T>C
NM_152274.5:c.607T>C MANE Select NP_689487.2:p.Tyr203His
NM_001130997.3:c.607T>C NP_001124469.1:p.Tyr203His