Canonical Allele Identifier: CA519213512

Gene: CCNQ

Linked Data

• gnomAD v4: X-153592542-C-G
• MyVariant Identifiers: chrX:g.152858000C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153592542C>G , CM000685.2:g.153592542C>G	GRCh38
NC_000023.10:g.152858000C>G , CM000685.1:g.152858000C>G	GRCh37
NC_000023.9:g.152511194C>G	NCBI36
NG_008393.2:g.11636G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000576892.8:c.621G>C MANE Select	ENSP00000461135.1:p.Val207=
ENST00000429336.5:c.193+2005G>C
ENST00000440428.5:c.621G>C	ENSP00000402949.2:p.Val207=
ENST00000576892.7:c.621G>C	ENSP00000461135.1:p.Val207=
ENST00000614850.1:c.277+3462G>C
ENST00000614851.4:c.442G>C
ENST00000620088.4:c.*497G>C	ENSP00000484108.1:n.*497G>C
ENST00000621629.4:c.*497G>C	ENSP00000478747.1:n.*497G>C
NM_001130997.2:c.621G>C	NP_001124469.1:p.Val207=
NM_152274.4:c.621G>C	NP_689487.2:p.Val207=
XM_005277920.3:c.591G>C	XP_005277977.1:p.Val197=
XM_005277921.3:c.591G>C	XP_005277978.1:p.Val197=
XM_011531213.1:c.495G>C	XP_011529515.1:p.Val165=
XM_011531214.1:c.495G>C	XP_011529516.1:p.Val165=
XM_011531215.1:c.495G>C	XP_011529517.1:p.Val165=
XM_005277920.4:c.591G>C	XP_005277977.1:p.Val197=
XM_005277921.4:c.591G>C	XP_005277978.1:p.Val197=
XM_011531214.2:c.495G>C	XP_011529516.1:p.Val165=
XM_011531215.2:c.495G>C	XP_011529517.1:p.Val165=
XR_002958810.1:n.2526G>C
NM_152274.5:c.621G>C MANE Select	NP_689487.2:p.Val207=
NM_001130997.3:c.621G>C	NP_001124469.1:p.Val207=