Canonical Allele Identifier: CA1138538170

Gene: CCNQ

Linked Data

• dbSNP Id: rs2090998169
• gnomAD v3: X-153592460-C-T
• gnomAD v4: X-153592460-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153592460C>T , CM000685.2:g.153592460C>T	GRCh38
NC_000023.10:g.152857918C>T , CM000685.1:g.152857918C>T	GRCh37
NC_000023.9:g.152511112C>T	NCBI36
NG_008393.2:g.11718G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000576892.8:c.657+46G>A MANE Select	ENSP00000461135.1:n.657+46G>A
ENST00000429336.5:c.193+2087G>A
ENST00000440428.5:c.657+46G>A	ENSP00000402949.2:n.657+46G>A
ENST00000576892.7:c.657+46G>A	ENSP00000461135.1:n.657+46G>A
ENST00000614850.1:c.277+3544G>A
ENST00000614851.4:c.478+46G>A
ENST00000620088.4:c.*533+46G>A	ENSP00000484108.1:n.*533+46G>A
ENST00000621629.4:c.*533+46G>A	ENSP00000478747.1:n.*533+46G>A
NM_001130997.2:c.657+46G>A	NP_001124469.1:n.657+46G>A
NM_152274.4:c.657+46G>A	NP_689487.2:n.657+46G>A
XM_005277920.3:c.627+46G>A	XP_005277977.1:n.627+46G>A
XM_005277921.3:c.627+46G>A	XP_005277978.1:n.627+46G>A
XM_011531213.1:c.531+46G>A	XP_011529515.1:n.531+46G>A
XM_011531214.1:c.531+46G>A	XP_011529516.1:n.531+46G>A
XM_011531215.1:c.531+46G>A	XP_011529517.1:n.531+46G>A
XM_005277920.4:c.627+46G>A	XP_005277977.1:n.627+46G>A
XM_005277921.4:c.627+46G>A	XP_005277978.1:n.627+46G>A
XM_011531214.2:c.531+46G>A	XP_011529516.1:n.531+46G>A
XM_011531215.2:c.531+46G>A	XP_011529517.1:n.531+46G>A
XR_002958810.1:n.2562+46G>A
NM_152274.5:c.657+46G>A MANE Select	NP_689487.2:n.657+46G>A
NM_001130997.3:c.657+46G>A	NP_001124469.1:n.657+46G>A