Canonical Allele Identifier: CA415088093

Gene: CCNQ

Linked Data

• dbSNP Id: rs1178567203
• gnomAD v3: X-153592655-C-T
• gnomAD v4: X-153592655-C-T
• MyVariant Identifiers: chrX:g.152858113C>T (hg19) ; chrX:g.153592655C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153592655C>T , CM000685.2:g.153592655C>T	GRCh38
NC_000023.10:g.152858113C>T , CM000685.1:g.152858113C>T	GRCh37
NC_000023.9:g.152511307C>T	NCBI36
NG_008393.2:g.11523G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000576892.8:c.508G>A MANE Select	ENSP00000461135.1:p.Ala170Thr
ENST00000429336.5:c.193+1892G>A
ENST00000440428.5:c.508G>A	ENSP00000402949.2:p.Ala170Thr
ENST00000482182.3:c.382G>A	ENSP00000466345.1:p.Ala128Thr
ENST00000576892.7:c.508G>A	ENSP00000461135.1:p.Ala170Thr
ENST00000614850.1:c.277+3349G>A
ENST00000614851.4:c.329G>A
ENST00000620088.4:c.*384G>A	ENSP00000484108.1:n.*384G>A
ENST00000621629.4:c.*384G>A	ENSP00000478747.1:n.*384G>A
ENST00000621817.1:c.*673G>A	ENSP00000481634.1:n.*673G>A
NM_001130997.2:c.508G>A	NP_001124469.1:p.Ala170Thr
NM_152274.4:c.508G>A	NP_689487.2:p.Ala170Thr
XM_005277920.3:c.478G>A	XP_005277977.1:p.Ala160Thr
XM_005277921.3:c.478G>A	XP_005277978.1:p.Ala160Thr
XM_011531213.1:c.382G>A	XP_011529515.1:p.Ala128Thr
XM_011531214.1:c.382G>A	XP_011529516.1:p.Ala128Thr
XM_011531215.1:c.382G>A	XP_011529517.1:p.Ala128Thr
XM_005277920.4:c.478G>A	XP_005277977.1:p.Ala160Thr
XM_005277921.4:c.478G>A	XP_005277978.1:p.Ala160Thr
XM_011531214.2:c.382G>A	XP_011529516.1:p.Ala128Thr
XM_011531215.2:c.382G>A	XP_011529517.1:p.Ala128Thr
XR_002958810.1:n.2413G>A
NM_152274.5:c.508G>A MANE Select	NP_689487.2:p.Ala170Thr
NM_001130997.3:c.508G>A	NP_001124469.1:p.Ala170Thr