Canonical Allele Identifier: CA10650357
Gene: CCDC40 HGNC NCBI

Linked Data

ClinVar Variation Id: 325762
ClinVar RCV Id: RCV000305692
dbSNP Id: rs886053539
gnomAD v2: 17-78073989-G-A
gnomAD v3: 17-80100190-G-A
gnomAD v4: 17-80100190-G-A
MyVariant Identifiers: chr17:g.78073989G>A (hg19) chr17:g.80100190G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.80100190G>A , CM000679.2:g.80100190G>A GRCh38
NC_000017.10:g.78073989G>A , CM000679.1:g.78073989G>A GRCh37
NC_000017.9:g.75688584G>A NCBI36
NG_009822.1:g.3635G>A , LRG_673:g.3635G>A
NG_029761.1:g.68559G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000397545.9:c.*415G>A MANE Select ENSP00000380679.4:n.*415G>A
ENST00000397545.8:c.*415G>A ENSP00000380679.4:n.*415G>A
ENST00000574799.5:n.3381G>A
NM_017950.3:c.*415G>A NP_060420.2:n.*415G>A
XM_011524963.1:c.*415G>A XP_011523265.1:n.*415G>A
XM_011524964.1:c.*415G>A XP_011523266.1:n.*415G>A
XM_011524963.3:c.*415G>A XP_011523265.1:n.*415G>A
XM_011524964.3:c.*415G>A XP_011523266.1:n.*415G>A
XM_024450821.1:c.*415G>A XP_024306589.1:n.*415G>A
XR_934495.2:n.3962G>A
NM_017950.4:c.*415G>A MANE Select NP_060420.2:n.*415G>A
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