Canonical Allele Identifier: CA10548380

Gene: CCNQ

Linked Data

• dbSNP Id: rs782808011
• ExAC: X:152858012 G / A
• gnomAD v2: X-152858012-G-A
• gnomAD v3: X-153592554-G-A
• gnomAD v4: X-153592554-G-A
• MyVariant Identifiers: chrX:g.152858012G>A (hg19) ; chrX:g.153592554G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153592554G>A , CM000685.2:g.153592554G>A	GRCh38
NC_000023.10:g.152858012G>A , CM000685.1:g.152858012G>A	GRCh37
NC_000023.9:g.152511206G>A	NCBI36
NG_008393.2:g.11624C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000576892.8:c.609C>T MANE Select	ENSP00000461135.1:p.Tyr203=
ENST00000429336.5:c.193+1993C>T
ENST00000440428.5:c.609C>T	ENSP00000402949.2:p.Tyr203=
ENST00000576892.7:c.609C>T	ENSP00000461135.1:p.Tyr203=
ENST00000614850.1:c.277+3450C>T
ENST00000614851.4:c.430C>T
ENST00000620088.4:c.*485C>T	ENSP00000484108.1:n.*485C>T
ENST00000621629.4:c.*485C>T	ENSP00000478747.1:n.*485C>T
NM_001130997.2:c.609C>T	NP_001124469.1:p.Tyr203=
NM_152274.4:c.609C>T	NP_689487.2:p.Tyr203=
XM_005277920.3:c.579C>T	XP_005277977.1:p.Tyr193=
XM_005277921.3:c.579C>T	XP_005277978.1:p.Tyr193=
XM_011531213.1:c.483C>T	XP_011529515.1:p.Tyr161=
XM_011531214.1:c.483C>T	XP_011529516.1:p.Tyr161=
XM_011531215.1:c.483C>T	XP_011529517.1:p.Tyr161=
XM_005277920.4:c.579C>T	XP_005277977.1:p.Tyr193=
XM_005277921.4:c.579C>T	XP_005277978.1:p.Tyr193=
XM_011531214.2:c.483C>T	XP_011529516.1:p.Tyr161=
XM_011531215.2:c.483C>T	XP_011529517.1:p.Tyr161=
XR_002958810.1:n.2514C>T
NM_152274.5:c.609C>T MANE Select	NP_689487.2:p.Tyr203=
NM_001130997.3:c.609C>T	NP_001124469.1:p.Tyr203=