Canonical Allele Identifier: CA415088550

Gene: CCNQ

Linked Data

• MyVariant Identifiers: chrX:g.152858181T>A (hg19) ; chrX:g.153592723T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153592723T>A , CM000685.2:g.153592723T>A	GRCh38
NC_000023.10:g.152858181T>A , CM000685.1:g.152858181T>A	GRCh37
NC_000023.9:g.152511375T>A	NCBI36
NG_008393.2:g.11455A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000576892.8:c.440A>T MANE Select	ENSP00000461135.1:p.His147Leu
ENST00000429336.5:c.193+1824A>T
ENST00000440428.5:c.440A>T	ENSP00000402949.2:p.His147Leu
ENST00000482182.3:c.314A>T	ENSP00000466345.1:p.His105Leu
ENST00000576892.7:c.440A>T	ENSP00000461135.1:p.His147Leu
ENST00000614850.1:c.277+3281A>T
ENST00000614851.4:c.261A>T
ENST00000620088.4:c.*316A>T	ENSP00000484108.1:n.*316A>T
ENST00000621629.4:c.*316A>T	ENSP00000478747.1:n.*316A>T
ENST00000621817.1:c.*605A>T	ENSP00000481634.1:n.*605A>T
NM_001130997.2:c.440A>T	NP_001124469.1:p.His147Leu
NM_152274.4:c.440A>T	NP_689487.2:p.His147Leu
XM_005277920.3:c.430-20A>T	XP_005277977.1:n.430-20A>T
XM_005277921.3:c.430-20A>T	XP_005277978.1:n.430-20A>T
XM_011531213.1:c.314A>T	XP_011529515.1:p.His105Leu
XM_011531214.1:c.314A>T	XP_011529516.1:p.His105Leu
XM_011531215.1:c.314A>T	XP_011529517.1:p.His105Leu
XM_005277920.4:c.430-20A>T	XP_005277977.1:n.430-20A>T
XM_005277921.4:c.430-20A>T	XP_005277978.1:n.430-20A>T
XM_011531214.2:c.314A>T	XP_011529516.1:p.His105Leu
XM_011531215.2:c.314A>T	XP_011529517.1:p.His105Leu
XR_002958810.1:n.2345A>T
NM_152274.5:c.440A>T MANE Select	NP_689487.2:p.His147Leu
NM_001130997.3:c.440A>T	NP_001124469.1:p.His147Leu