Canonical Allele Identifier: CA10411543
Gene: CCDC22 HGNC NCBI

Linked Data

ClinVar Variation Id: 284920
ClinVar RCV Id: RCV000353781 RCV001554713
dbSNP Id: rs2294021
ExAC: X:49105610 T / C
gnomAD v2: X-49105610-T-C
gnomAD v3: X-49249149-T-C
gnomAD v4: X-49249149-T-C
MyVariant Identifiers: chrX:g.49105610T>C (hg19) chrX:g.49249149T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.49249149T>C , CM000685.2:g.49249149T>C GRCh38
NC_000023.10:g.49105610T>C , CM000685.1:g.49105610T>C GRCh37
NC_000023.9:g.48992554T>C NCBI36
NG_007392.1:g.20679A>G , LRG_62:g.20679A>G
NG_021311.2:g.18685T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000376227.4:c.1540-18T>C MANE Select ENSP00000365401.3:n.1540-18T>C
ENST00000376227.3:c.1540-18T>C ENSP00000365401.3:n.1540-18T>C
NM_014008.4:c.1540-18T>C NP_054727.1:n.1540-18T>C
XM_005272599.2:c.1537-18T>C XP_005272656.1:n.1537-18T>C
XR_430506.1:n.1638-18T>C
XM_005272599.4:c.1537-18T>C XP_005272656.1:n.1537-18T>C
XR_430506.3:n.1651-18T>C
NM_014008.5:c.1540-18T>C MANE Select NP_054727.1:n.1540-18T>C
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