Canonical Allele Identifier: CA519213450

Gene: CCNQ

Linked Data

• dbSNP Id: rs1212606310
• gnomAD v4: X-153592533-C-T
• MyVariant Identifiers: chrX:g.152857991C>T (hg19) ; chrX:g.153592533C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153592533C>T , CM000685.2:g.153592533C>T	GRCh38
NC_000023.10:g.152857991C>T , CM000685.1:g.152857991C>T	GRCh37
NC_000023.9:g.152511185C>T	NCBI36
NG_008393.2:g.11645G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000576892.8:c.630G>A MANE Select	ENSP00000461135.1:p.Glu210=
ENST00000429336.5:c.193+2014G>A
ENST00000440428.5:c.630G>A	ENSP00000402949.2:p.Glu210=
ENST00000576892.7:c.630G>A	ENSP00000461135.1:p.Glu210=
ENST00000614850.1:c.277+3471G>A
ENST00000614851.4:c.451G>A
ENST00000620088.4:c.*506G>A	ENSP00000484108.1:n.*506G>A
ENST00000621629.4:c.*506G>A	ENSP00000478747.1:n.*506G>A
NM_001130997.2:c.630G>A	NP_001124469.1:p.Glu210=
NM_152274.4:c.630G>A	NP_689487.2:p.Glu210=
XM_005277920.3:c.600G>A	XP_005277977.1:p.Glu200=
XM_005277921.3:c.600G>A	XP_005277978.1:p.Glu200=
XM_011531213.1:c.504G>A	XP_011529515.1:p.Glu168=
XM_011531214.1:c.504G>A	XP_011529516.1:p.Glu168=
XM_011531215.1:c.504G>A	XP_011529517.1:p.Glu168=
XM_005277920.4:c.600G>A	XP_005277977.1:p.Glu200=
XM_005277921.4:c.600G>A	XP_005277978.1:p.Glu200=
XM_011531214.2:c.504G>A	XP_011529516.1:p.Glu168=
XM_011531215.2:c.504G>A	XP_011529517.1:p.Glu168=
XR_002958810.1:n.2535G>A
NM_152274.5:c.630G>A MANE Select	NP_689487.2:p.Glu210=
NM_001130997.3:c.630G>A	NP_001124469.1:p.Glu210=