Canonical Allele Identifier: CA206500

Gene: CCDC22

Linked Data

• ClinVar Variation Id: 210615
• ClinVar RCV Id: RCV000193188 ; RCV000445174 ; RCV003917739
• dbSNP Id: rs143790434
• ExAC: X:49104709 C / T
• gnomAD v2: X-49104709-C-T
• gnomAD v3: X-49248248-C-T
• gnomAD v4: X-49248248-C-T
• MyVariant Identifiers: chrX:g.49104709C>T (hg19) ; chrX:g.49248248C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.49248248C>T , CM000685.2:g.49248248C>T	GRCh38
NC_000023.10:g.49104709C>T , CM000685.1:g.49104709C>T	GRCh37
NC_000023.9:g.48991653C>T	NCBI36
NG_021311.2:g.17784C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376227.4:c.1150C>T MANE Select	ENSP00000365401.3:p.Arg384Cys
ENST00000376227.3:c.1150C>T	ENSP00000365401.3:p.Arg384Cys
NM_014008.4:c.1150C>T	NP_054727.1:p.Arg384Cys
XM_005272599.2:c.1147C>T	XP_005272656.1:p.Arg383Cys
XR_430506.1:n.1248C>T
XM_005272599.4:c.1147C>T	XP_005272656.1:p.Arg383Cys
XR_430506.3:n.1261C>T
NM_014008.5:c.1150C>T MANE Select	NP_054727.1:p.Arg384Cys