Canonical Allele Identifier: CA415087211

Gene: CCNQ

Linked Data

• ClinVar Variation Id: 1684282
• ClinVar RCV Id: RCV002245288
• dbSNP Id: rs2148299424
• MyVariant Identifiers: chrX:g.152857970C>T (hg19) ; chrX:g.153592512C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153592512C>T , CM000685.2:g.153592512C>T	GRCh38
NC_000023.10:g.152857970C>T , CM000685.1:g.152857970C>T	GRCh37
NC_000023.9:g.152511164C>T	NCBI36
NG_008393.2:g.11666G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000576892.8:c.651G>A MANE Select	ENSP00000461135.1:p.Trp217Ter
ENST00000429336.5:c.193+2035G>A
ENST00000440428.5:c.651G>A	ENSP00000402949.2:p.Trp217Ter
ENST00000576892.7:c.651G>A	ENSP00000461135.1:p.Trp217Ter
ENST00000614850.1:c.277+3492G>A
ENST00000614851.4:c.472G>A
ENST00000620088.4:c.*527G>A	ENSP00000484108.1:n.*527G>A
ENST00000621629.4:c.*527G>A	ENSP00000478747.1:n.*527G>A
NM_001130997.2:c.651G>A	NP_001124469.1:p.Trp217Ter
NM_152274.4:c.651G>A	NP_689487.2:p.Trp217Ter
XM_005277920.3:c.621G>A	XP_005277977.1:p.Trp207Ter
XM_005277921.3:c.621G>A	XP_005277978.1:p.Trp207Ter
XM_011531213.1:c.525G>A	XP_011529515.1:p.Trp175Ter
XM_011531214.1:c.525G>A	XP_011529516.1:p.Trp175Ter
XM_011531215.1:c.525G>A	XP_011529517.1:p.Trp175Ter
XM_005277920.4:c.621G>A	XP_005277977.1:p.Trp207Ter
XM_005277921.4:c.621G>A	XP_005277978.1:p.Trp207Ter
XM_011531214.2:c.525G>A	XP_011529516.1:p.Trp175Ter
XM_011531215.2:c.525G>A	XP_011529517.1:p.Trp175Ter
XR_002958810.1:n.2556G>A
NM_152274.5:c.651G>A MANE Select	NP_689487.2:p.Trp217Ter
NM_001130997.3:c.651G>A	NP_001124469.1:p.Trp217Ter