Canonical Allele Identifier: CA415087498

Gene: CCNQ

Linked Data

• dbSNP Id: rs1557026021
• gnomAD v2: X-152858016-A-G
• gnomAD v4: X-153592558-A-G
• MyVariant Identifiers: chrX:g.152858016A>G (hg19) ; chrX:g.153592558A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153592558A>G , CM000685.2:g.153592558A>G	GRCh38
NC_000023.10:g.152858016A>G , CM000685.1:g.152858016A>G	GRCh37
NC_000023.9:g.152511210A>G	NCBI36
NG_008393.2:g.11620T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000576892.8:c.605T>C MANE Select	ENSP00000461135.1:p.Val202Ala
ENST00000429336.5:c.193+1989T>C
ENST00000440428.5:c.605T>C	ENSP00000402949.2:p.Val202Ala
ENST00000576892.7:c.605T>C	ENSP00000461135.1:p.Val202Ala
ENST00000614850.1:c.277+3446T>C
ENST00000614851.4:c.426T>C
ENST00000620088.4:c.*481T>C	ENSP00000484108.1:n.*481T>C
ENST00000621629.4:c.*481T>C	ENSP00000478747.1:n.*481T>C
NM_001130997.2:c.605T>C	NP_001124469.1:p.Val202Ala
NM_152274.4:c.605T>C	NP_689487.2:p.Val202Ala
XM_005277920.3:c.575T>C	XP_005277977.1:p.Val192Ala
XM_005277921.3:c.575T>C	XP_005277978.1:p.Val192Ala
XM_011531213.1:c.479T>C	XP_011529515.1:p.Val160Ala
XM_011531214.1:c.479T>C	XP_011529516.1:p.Val160Ala
XM_011531215.1:c.479T>C	XP_011529517.1:p.Val160Ala
XM_005277920.4:c.575T>C	XP_005277977.1:p.Val192Ala
XM_005277921.4:c.575T>C	XP_005277978.1:p.Val192Ala
XM_011531214.2:c.479T>C	XP_011529516.1:p.Val160Ala
XM_011531215.2:c.479T>C	XP_011529517.1:p.Val160Ala
XR_002958810.1:n.2510T>C
NM_152274.5:c.605T>C MANE Select	NP_689487.2:p.Val202Ala
NM_001130997.3:c.605T>C	NP_001124469.1:p.Val202Ala