Canonical Allele Identifier: CA10548384
Gene: CCNQ HGNC NCBI

Linked Data

ClinVar Variation Id: 1574003
ClinVar RCV Id: RCV002080399
dbSNP Id: rs781829925

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153592581C>T , CM000685.2:g.153592581C>T GRCh38
NC_000023.10:g.152858039C>T , CM000685.1:g.152858039C>T GRCh37
NC_000023.9:g.152511233C>T NCBI36
NG_008393.2:g.11597G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000576892.8:c.582G>A MANE Select ENSP00000461135.1:p.Ala194=
ENST00000429336.5:c.193+1966G>A
ENST00000440428.5:c.582G>A ENSP00000402949.2:p.Ala194=
ENST00000576892.7:c.582G>A ENSP00000461135.1:p.Ala194=
ENST00000614850.1:c.277+3423G>A
ENST00000614851.4:c.403G>A
ENST00000620088.4:c.*458G>A ENSP00000484108.1:n.*458G>A
ENST00000621629.4:c.*458G>A ENSP00000478747.1:n.*458G>A
ENST00000621817.1:c.*747G>A ENSP00000481634.1:n.*747G>A
NM_001130997.2:c.582G>A NP_001124469.1:p.Ala194=
NM_152274.4:c.582G>A NP_689487.2:p.Ala194=
XM_005277920.3:c.552G>A XP_005277977.1:p.Ala184=
XM_005277921.3:c.552G>A XP_005277978.1:p.Ala184=
XM_011531213.1:c.456G>A XP_011529515.1:p.Ala152=
XM_011531214.1:c.456G>A XP_011529516.1:p.Ala152=
XM_011531215.1:c.456G>A XP_011529517.1:p.Ala152=
XM_005277920.4:c.552G>A XP_005277977.1:p.Ala184=
XM_005277921.4:c.552G>A XP_005277978.1:p.Ala184=
XM_011531214.2:c.456G>A XP_011529516.1:p.Ala152=
XM_011531215.2:c.456G>A XP_011529517.1:p.Ala152=
XR_002958810.1:n.2487G>A
NM_152274.5:c.582G>A MANE Select NP_689487.2:p.Ala194=
NM_001130997.3:c.582G>A NP_001124469.1:p.Ala194=