Canonical Allele Identifier: CA519213737
Gene: CCNQ HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.152858042C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153592584C>G , CM000685.2:g.153592584C>G GRCh38
NC_000023.10:g.152858042C>G , CM000685.1:g.152858042C>G GRCh37
NC_000023.9:g.152511236C>G NCBI36
NG_008393.2:g.11594G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000576892.8:c.579G>C MANE Select ENSP00000461135.1:p.Val193=
ENST00000429336.5:c.193+1963G>C
ENST00000440428.5:c.579G>C ENSP00000402949.2:p.Val193=
ENST00000576892.7:c.579G>C ENSP00000461135.1:p.Val193=
ENST00000614850.1:c.277+3420G>C
ENST00000614851.4:c.400G>C
ENST00000620088.4:c.*455G>C ENSP00000484108.1:n.*455G>C
ENST00000621629.4:c.*455G>C ENSP00000478747.1:n.*455G>C
ENST00000621817.1:c.*744G>C ENSP00000481634.1:n.*744G>C
NM_001130997.2:c.579G>C NP_001124469.1:p.Val193=
NM_152274.4:c.579G>C NP_689487.2:p.Val193=
XM_005277920.3:c.549G>C XP_005277977.1:p.Val183=
XM_005277921.3:c.549G>C XP_005277978.1:p.Val183=
XM_011531213.1:c.453G>C XP_011529515.1:p.Val151=
XM_011531214.1:c.453G>C XP_011529516.1:p.Val151=
XM_011531215.1:c.453G>C XP_011529517.1:p.Val151=
XM_005277920.4:c.549G>C XP_005277977.1:p.Val183=
XM_005277921.4:c.549G>C XP_005277978.1:p.Val183=
XM_011531214.2:c.453G>C XP_011529516.1:p.Val151=
XM_011531215.2:c.453G>C XP_011529517.1:p.Val151=
XR_002958810.1:n.2484G>C
NM_152274.5:c.579G>C MANE Select NP_689487.2:p.Val193=
NM_001130997.3:c.579G>C NP_001124469.1:p.Val193=