Canonical Allele Identifier: CA415087862

Gene: CCNQ

Linked Data

• gnomAD v4: X-153592613-G-C
• MyVariant Identifiers: chrX:g.152858071G>C (hg19) ; chrX:g.153592613G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153592613G>C , CM000685.2:g.153592613G>C	GRCh38
NC_000023.10:g.152858071G>C , CM000685.1:g.152858071G>C	GRCh37
NC_000023.9:g.152511265G>C	NCBI36
NG_008393.2:g.11565C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000576892.8:c.550C>G MANE Select	ENSP00000461135.1:p.Leu184Val
ENST00000429336.5:c.193+1934C>G
ENST00000440428.5:c.550C>G	ENSP00000402949.2:p.Leu184Val
ENST00000482182.3:c.424C>G
ENST00000576892.7:c.550C>G	ENSP00000461135.1:p.Leu184Val
ENST00000614850.1:c.277+3391C>G
ENST00000614851.4:c.371C>G
ENST00000620088.4:c.*426C>G	ENSP00000484108.1:n.*426C>G
ENST00000621629.4:c.*426C>G	ENSP00000478747.1:n.*426C>G
ENST00000621817.1:c.*715C>G	ENSP00000481634.1:n.*715C>G
NM_001130997.2:c.550C>G	NP_001124469.1:p.Leu184Val
NM_152274.4:c.550C>G	NP_689487.2:p.Leu184Val
XM_005277920.3:c.520C>G	XP_005277977.1:p.Leu174Val
XM_005277921.3:c.520C>G	XP_005277978.1:p.Leu174Val
XM_011531213.1:c.424C>G	XP_011529515.1:p.Leu142Val
XM_011531214.1:c.424C>G	XP_011529516.1:p.Leu142Val
XM_011531215.1:c.424C>G	XP_011529517.1:p.Leu142Val
XM_005277920.4:c.520C>G	XP_005277977.1:p.Leu174Val
XM_005277921.4:c.520C>G	XP_005277978.1:p.Leu174Val
XM_011531214.2:c.424C>G	XP_011529516.1:p.Leu142Val
XM_011531215.2:c.424C>G	XP_011529517.1:p.Leu142Val
XR_002958810.1:n.2455C>G
NM_152274.5:c.550C>G MANE Select	NP_689487.2:p.Leu184Val
NM_001130997.3:c.550C>G	NP_001124469.1:p.Leu184Val