Canonical Allele Identifier: CA8814325
Gene: CCDC40 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 407769
ClinVar RCV Id: RCV000465864
dbSNP Id: rs370706991

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.80089763G>T , CM000679.2:g.80089763G>T GRCh38
NC_000017.10:g.78063562G>T , CM000679.1:g.78063562G>T GRCh37
NC_000017.9:g.75678157G>T NCBI36
NG_029761.1:g.58132G>T

Transcript Alleles

HGVS Amino-acid change
NM_001243342.1:c.2712-1G>T VV NP_001230271.1:p.=
NM_017950.3:c.2712-1G>T VV NP_060420.2:p.=
XM_011524963.1:c.2622-1G>T XP_011523265.1:p.=
XM_011524964.1:c.1533-1G>T XP_011523266.1:p.=
XR_934495.1:n.2830-1G>T
XM_011524963.3:c.2622-1G>T
XM_011524964.3:c.1533-1G>T
XM_024450821.1:c.2622-1G>T XP_024306589.1:p.=
XR_934495.2:n.2830-1G>T
NM_017950.4:c.2712-1G>T VV MANE Preferred
ENST00000374877.7:c.2712-1G>T ENSP00000364011.3:p.=
ENST00000397545.8:c.2712-1G>T ENSP00000380679.4:p.=
ENST00000572253.5:n.2963-1G>T
ENST00000573903.1:n.373G>T
ENST00000574799.5:n.2249-1G>T
ENST00000575431.1:n.356-1G>T