Canonical Allele Identifier: CA519213662

Gene: CCNQ

Linked Data

• gnomAD v4: X-153592569-C-T
• MyVariant Identifiers: chrX:g.152858027C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153592569C>T , CM000685.2:g.153592569C>T	GRCh38
NC_000023.10:g.152858027C>T , CM000685.1:g.152858027C>T	GRCh37
NC_000023.9:g.152511221C>T	NCBI36
NG_008393.2:g.11609G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000576892.8:c.594G>A MANE Select	ENSP00000461135.1:p.Leu198=
ENST00000429336.5:c.193+1978G>A
ENST00000440428.5:c.594G>A	ENSP00000402949.2:p.Leu198=
ENST00000576892.7:c.594G>A	ENSP00000461135.1:p.Leu198=
ENST00000614850.1:c.277+3435G>A
ENST00000614851.4:c.415G>A
ENST00000620088.4:c.*470G>A	ENSP00000484108.1:n.*470G>A
ENST00000621629.4:c.*470G>A	ENSP00000478747.1:n.*470G>A
NM_001130997.2:c.594G>A	NP_001124469.1:p.Leu198=
NM_152274.4:c.594G>A	NP_689487.2:p.Leu198=
XM_005277920.3:c.564G>A	XP_005277977.1:p.Leu188=
XM_005277921.3:c.564G>A	XP_005277978.1:p.Leu188=
XM_011531213.1:c.468G>A	XP_011529515.1:p.Leu156=
XM_011531214.1:c.468G>A	XP_011529516.1:p.Leu156=
XM_011531215.1:c.468G>A	XP_011529517.1:p.Leu156=
XM_005277920.4:c.564G>A	XP_005277977.1:p.Leu188=
XM_005277921.4:c.564G>A	XP_005277978.1:p.Leu188=
XM_011531214.2:c.468G>A	XP_011529516.1:p.Leu156=
XM_011531215.2:c.468G>A	XP_011529517.1:p.Leu156=
XR_002958810.1:n.2499G>A
NM_152274.5:c.594G>A MANE Select	NP_689487.2:p.Leu198=
NM_001130997.3:c.594G>A	NP_001124469.1:p.Leu198=