Canonical Allele Identifier: CA519213548

Gene: CCNQ

Linked Data

• dbSNP Id: rs1557026015
• gnomAD v2: X-152858006-A-T
• gnomAD v4: X-153592548-A-T
• MyVariant Identifiers: chrX:g.152858006A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153592548A>T , CM000685.2:g.153592548A>T	GRCh38
NC_000023.10:g.152858006A>T , CM000685.1:g.152858006A>T	GRCh37
NC_000023.9:g.152511200A>T	NCBI36
NG_008393.2:g.11630T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000576892.8:c.615T>A MANE Select	ENSP00000461135.1:p.Val205=
ENST00000429336.5:c.193+1999T>A
ENST00000440428.5:c.615T>A	ENSP00000402949.2:p.Val205=
ENST00000576892.7:c.615T>A	ENSP00000461135.1:p.Val205=
ENST00000614850.1:c.277+3456T>A
ENST00000614851.4:c.436T>A
ENST00000620088.4:c.*491T>A	ENSP00000484108.1:n.*491T>A
ENST00000621629.4:c.*491T>A	ENSP00000478747.1:n.*491T>A
NM_001130997.2:c.615T>A	NP_001124469.1:p.Val205=
NM_152274.4:c.615T>A	NP_689487.2:p.Val205=
XM_005277920.3:c.585T>A	XP_005277977.1:p.Val195=
XM_005277921.3:c.585T>A	XP_005277978.1:p.Val195=
XM_011531213.1:c.489T>A	XP_011529515.1:p.Val163=
XM_011531214.1:c.489T>A	XP_011529516.1:p.Val163=
XM_011531215.1:c.489T>A	XP_011529517.1:p.Val163=
XM_005277920.4:c.585T>A	XP_005277977.1:p.Val195=
XM_005277921.4:c.585T>A	XP_005277978.1:p.Val195=
XM_011531214.2:c.489T>A	XP_011529516.1:p.Val163=
XM_011531215.2:c.489T>A	XP_011529517.1:p.Val163=
XR_002958810.1:n.2520T>A
NM_152274.5:c.615T>A MANE Select	NP_689487.2:p.Val205=
NM_001130997.3:c.615T>A	NP_001124469.1:p.Val205=