Canonical Allele Identifier: CA16609136
Gene: CCNQ HGNC NCBI

Linked Data

ClinVar Variation Id: 382099
ClinVar RCV Id: RCV000434465
dbSNP Id: rs1057521251

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153592547C>A , CM000685.2:g.153592547C>A GRCh38
NC_000023.10:g.152858005C>A , CM000685.1:g.152858005C>A GRCh37
NC_000023.9:g.152511199C>A NCBI36
NG_008393.2:g.11631G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000576892.8:c.616G>T MANE Select ENSP00000461135.1:p.Glu206Ter
ENST00000429336.5:c.193+2000G>T
ENST00000440428.5:c.616G>T ENSP00000402949.2:p.Glu206Ter
ENST00000576892.7:c.616G>T ENSP00000461135.1:p.Glu206Ter
ENST00000614850.1:c.277+3457G>T
ENST00000614851.4:c.437G>T
ENST00000620088.4:c.*492G>T ENSP00000484108.1:n.*492G>T
ENST00000621629.4:c.*492G>T ENSP00000478747.1:n.*492G>T
NM_001130997.2:c.616G>T NP_001124469.1:p.Glu206Ter
NM_152274.4:c.616G>T NP_689487.2:p.Glu206Ter
XM_005277920.3:c.586G>T XP_005277977.1:p.Glu196Ter
XM_005277921.3:c.586G>T XP_005277978.1:p.Glu196Ter
XM_011531213.1:c.490G>T XP_011529515.1:p.Glu164Ter
XM_011531214.1:c.490G>T XP_011529516.1:p.Glu164Ter
XM_011531215.1:c.490G>T XP_011529517.1:p.Glu164Ter
XM_005277920.4:c.586G>T XP_005277977.1:p.Glu196Ter
XM_005277921.4:c.586G>T XP_005277978.1:p.Glu196Ter
XM_011531214.2:c.490G>T XP_011529516.1:p.Glu164Ter
XM_011531215.2:c.490G>T XP_011529517.1:p.Glu164Ter
XR_002958810.1:n.2521G>T
NM_152274.5:c.616G>T MANE Select NP_689487.2:p.Glu206Ter
NM_001130997.3:c.616G>T NP_001124469.1:p.Glu206Ter