Canonical Allele Identifier: CA203498
Gene: CCDC22 HGNC NCBI

Linked Data

ClinVar Variation Id: 198556
ClinVar RCV Id: RCV000179938 RCV000886329
dbSNP Id: rs199809018
ExAC: X:49103192 G / A
gnomAD v2: X-49103192-G-A
gnomAD v3: X-49246731-G-A
gnomAD v4: X-49246731-G-A
COSMIC: COSM4618922 COSM4618923
MyVariant Identifiers: chrX:g.49103192G>A (hg19) chrX:g.49246731G>A (hg38)
PubMed: PMID:23891399
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.49246731G>A , CM000685.2:g.49246731G>A GRCh38
NC_000023.10:g.49103192G>A , CM000685.1:g.49103192G>A GRCh37
NC_000023.9:g.48990136G>A NCBI36
NG_021311.2:g.16267G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000376227.4:c.715G>A MANE Select ENSP00000365401.3:p.Glu239Lys
ENST00000376227.3:c.715G>A ENSP00000365401.3:p.Glu239Lys
NM_014008.4:c.715G>A NP_054727.1:p.Glu239Lys
XM_005272599.2:c.712G>A XP_005272656.1:p.Glu238Lys
XR_430506.1:n.817G>A
XM_005272599.4:c.712G>A XP_005272656.1:p.Glu238Lys
XR_430506.3:n.830G>A
NM_014008.5:c.715G>A MANE Select NP_054727.1:p.Glu239Lys
Search 100 bp 5'
Search 100 bp 3'