Canonical Allele Identifier: CA519214293
Gene: CCNQ HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.152858117G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153592659G>A , CM000685.2:g.153592659G>A GRCh38
NC_000023.10:g.152858117G>A , CM000685.1:g.152858117G>A GRCh37
NC_000023.9:g.152511311G>A NCBI36
NG_008393.2:g.11519C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000576892.8:c.504C>T MANE Select ENSP00000461135.1:p.Val168=
ENST00000429336.5:c.193+1888C>T
ENST00000440428.5:c.504C>T ENSP00000402949.2:p.Val168=
ENST00000482182.3:c.378C>T ENSP00000466345.1:p.Val126=
ENST00000576892.7:c.504C>T ENSP00000461135.1:p.Val168=
ENST00000614850.1:c.277+3345C>T
ENST00000614851.4:c.325C>T
ENST00000620088.4:c.*380C>T ENSP00000484108.1:n.*380C>T
ENST00000621629.4:c.*380C>T ENSP00000478747.1:n.*380C>T
ENST00000621817.1:c.*669C>T ENSP00000481634.1:n.*669C>T
NM_001130997.2:c.504C>T NP_001124469.1:p.Val168=
NM_152274.4:c.504C>T NP_689487.2:p.Val168=
XM_005277920.3:c.474C>T XP_005277977.1:p.Val158=
XM_005277921.3:c.474C>T XP_005277978.1:p.Val158=
XM_011531213.1:c.378C>T XP_011529515.1:p.Val126=
XM_011531214.1:c.378C>T XP_011529516.1:p.Val126=
XM_011531215.1:c.378C>T XP_011529517.1:p.Val126=
XM_005277920.4:c.474C>T XP_005277977.1:p.Val158=
XM_005277921.4:c.474C>T XP_005277978.1:p.Val158=
XM_011531214.2:c.378C>T XP_011529516.1:p.Val126=
XM_011531215.2:c.378C>T XP_011529517.1:p.Val126=
XR_002958810.1:n.2409C>T
NM_152274.5:c.504C>T MANE Select NP_689487.2:p.Val168=
NM_001130997.3:c.504C>T NP_001124469.1:p.Val168=