Canonical Allele Identifier: CA986718336
Gene: CCDC40 HGNC NCBI

Linked Data

dbSNP Id: rs2038887978
gnomAD v3: 17-80099842-G-A
gnomAD v4: 17-80099842-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.80099842G>A , CM000679.2:g.80099842G>A GRCh38
NC_000017.10:g.78073641G>A , CM000679.1:g.78073641G>A GRCh37
NC_000017.9:g.75688236G>A NCBI36
NG_009822.1:g.3287G>A , LRG_673:g.3287G>A
NG_029761.1:g.68211G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000397545.9:c.*67G>A MANE Select ENSP00000380679.4:n.*67G>A
ENST00000397545.8:c.*67G>A ENSP00000380679.4:n.*67G>A
ENST00000574799.5:n.3033G>A
NM_017950.3:c.*67G>A NP_060420.2:n.*67G>A
XM_011524963.1:c.*67G>A XP_011523265.1:n.*67G>A
XM_011524964.1:c.*67G>A XP_011523266.1:n.*67G>A
XM_011524963.3:c.*67G>A XP_011523265.1:n.*67G>A
XM_011524964.3:c.*67G>A XP_011523266.1:n.*67G>A
XM_024450821.1:c.*67G>A XP_024306589.1:n.*67G>A
XR_934495.2:n.3614G>A
NM_017950.4:c.*67G>A MANE Select NP_060420.2:n.*67G>A
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