Canonical Allele Identifier: CA415088542

Gene: CCNQ

Linked Data

• MyVariant Identifiers: chrX:g.152858180G>C (hg19) ; chrX:g.153592722G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153592722G>C , CM000685.2:g.153592722G>C	GRCh38
NC_000023.10:g.152858180G>C , CM000685.1:g.152858180G>C	GRCh37
NC_000023.9:g.152511374G>C	NCBI36
NG_008393.2:g.11456C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000576892.8:c.441C>G MANE Select	ENSP00000461135.1:p.His147Gln
ENST00000429336.5:c.193+1825C>G
ENST00000440428.5:c.441C>G	ENSP00000402949.2:p.His147Gln
ENST00000482182.3:c.315C>G	ENSP00000466345.1:p.His105Gln
ENST00000576892.7:c.441C>G	ENSP00000461135.1:p.His147Gln
ENST00000614850.1:c.277+3282C>G
ENST00000614851.4:c.262C>G
ENST00000620088.4:c.*317C>G	ENSP00000484108.1:n.*317C>G
ENST00000621629.4:c.*317C>G	ENSP00000478747.1:n.*317C>G
ENST00000621817.1:c.*606C>G	ENSP00000481634.1:n.*606C>G
NM_001130997.2:c.441C>G	NP_001124469.1:p.His147Gln
NM_152274.4:c.441C>G	NP_689487.2:p.His147Gln
XM_005277920.3:c.430-19C>G	XP_005277977.1:n.430-19C>G
XM_005277921.3:c.430-19C>G	XP_005277978.1:n.430-19C>G
XM_011531213.1:c.315C>G	XP_011529515.1:p.His105Gln
XM_011531214.1:c.315C>G	XP_011529516.1:p.His105Gln
XM_011531215.1:c.315C>G	XP_011529517.1:p.His105Gln
XM_005277920.4:c.430-19C>G	XP_005277977.1:n.430-19C>G
XM_005277921.4:c.430-19C>G	XP_005277978.1:n.430-19C>G
XM_011531214.2:c.315C>G	XP_011529516.1:p.His105Gln
XM_011531215.2:c.315C>G	XP_011529517.1:p.His105Gln
XR_002958810.1:n.2346C>G
NM_152274.5:c.441C>G MANE Select	NP_689487.2:p.His147Gln
NM_001130997.3:c.441C>G	NP_001124469.1:p.His147Gln