Canonical Allele Identifier: CA415088196

Gene: CCNQ

Linked Data

• dbSNP Id: rs1393228949
• gnomAD v3: X-153592676-G-A
• gnomAD v4: X-153592676-G-A
• MyVariant Identifiers: chrX:g.152858134G>A (hg19) ; chrX:g.153592676G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153592676G>A , CM000685.2:g.153592676G>A	GRCh38
NC_000023.10:g.152858134G>A , CM000685.1:g.152858134G>A	GRCh37
NC_000023.9:g.152511328G>A	NCBI36
NG_008393.2:g.11502C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000576892.8:c.487C>T MANE Select	ENSP00000461135.1:p.Arg163Trp
ENST00000429336.5:c.193+1871C>T
ENST00000440428.5:c.487C>T	ENSP00000402949.2:p.Arg163Trp
ENST00000482182.3:c.361C>T	ENSP00000466345.1:p.Arg121Trp
ENST00000576892.7:c.487C>T	ENSP00000461135.1:p.Arg163Trp
ENST00000614850.1:c.277+3328C>T
ENST00000614851.4:c.308C>T
ENST00000620088.4:c.*363C>T	ENSP00000484108.1:n.*363C>T
ENST00000621629.4:c.*363C>T	ENSP00000478747.1:n.*363C>T
ENST00000621817.1:c.*652C>T	ENSP00000481634.1:n.*652C>T
NM_001130997.2:c.487C>T	NP_001124469.1:p.Arg163Trp
NM_152274.4:c.487C>T	NP_689487.2:p.Arg163Trp
XM_005277920.3:c.457C>T	XP_005277977.1:p.Arg153Trp
XM_005277921.3:c.457C>T	XP_005277978.1:p.Arg153Trp
XM_011531213.1:c.361C>T	XP_011529515.1:p.Arg121Trp
XM_011531214.1:c.361C>T	XP_011529516.1:p.Arg121Trp
XM_011531215.1:c.361C>T	XP_011529517.1:p.Arg121Trp
XM_005277920.4:c.457C>T	XP_005277977.1:p.Arg153Trp
XM_005277921.4:c.457C>T	XP_005277978.1:p.Arg153Trp
XM_011531214.2:c.361C>T	XP_011529516.1:p.Arg121Trp
XM_011531215.2:c.361C>T	XP_011529517.1:p.Arg121Trp
XR_002958810.1:n.2392C>T
NM_152274.5:c.487C>T MANE Select	NP_689487.2:p.Arg163Trp
NM_001130997.3:c.487C>T	NP_001124469.1:p.Arg163Trp