Canonical Allele Identifier: CA415087308

Gene: CCNQ

Linked Data

• MyVariant Identifiers: chrX:g.152857985C>G (hg19) ; chrX:g.153592527C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153592527C>G , CM000685.2:g.153592527C>G	GRCh38
NC_000023.10:g.152857985C>G , CM000685.1:g.152857985C>G	GRCh37
NC_000023.9:g.152511179C>G	NCBI36
NG_008393.2:g.11651G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000576892.8:c.636G>C MANE Select	ENSP00000461135.1:p.Glu212Asp
ENST00000429336.5:c.193+2020G>C
ENST00000440428.5:c.636G>C	ENSP00000402949.2:p.Glu212Asp
ENST00000576892.7:c.636G>C	ENSP00000461135.1:p.Glu212Asp
ENST00000614850.1:c.277+3477G>C
ENST00000614851.4:c.457G>C
ENST00000620088.4:c.*512G>C	ENSP00000484108.1:n.*512G>C
ENST00000621629.4:c.*512G>C	ENSP00000478747.1:n.*512G>C
NM_001130997.2:c.636G>C	NP_001124469.1:p.Glu212Asp
NM_152274.4:c.636G>C	NP_689487.2:p.Glu212Asp
XM_005277920.3:c.606G>C	XP_005277977.1:p.Glu202Asp
XM_005277921.3:c.606G>C	XP_005277978.1:p.Glu202Asp
XM_011531213.1:c.510G>C	XP_011529515.1:p.Glu170Asp
XM_011531214.1:c.510G>C	XP_011529516.1:p.Glu170Asp
XM_011531215.1:c.510G>C	XP_011529517.1:p.Glu170Asp
XM_005277920.4:c.606G>C	XP_005277977.1:p.Glu202Asp
XM_005277921.4:c.606G>C	XP_005277978.1:p.Glu202Asp
XM_011531214.2:c.510G>C	XP_011529516.1:p.Glu170Asp
XM_011531215.2:c.510G>C	XP_011529517.1:p.Glu170Asp
XR_002958810.1:n.2541G>C
NM_152274.5:c.636G>C MANE Select	NP_689487.2:p.Glu212Asp
NM_001130997.3:c.636G>C	NP_001124469.1:p.Glu212Asp