Canonical Allele Identifier: CA8975090
Gene: NEDD4L HGNC NCBI

Linked Data

ClinVar Variation Id: 225996
dbSNP Id: rs4149601

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.58149559G>A , CM000680.2:g.58149559G>A GRCh38
NC_000018.9:g.55816791G>A , CM000680.1:g.55816791G>A GRCh37
NC_000018.8:g.53967789G>A NCBI36
NG_029954.1:g.110182G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000400345.8:c.49-16229G>A MANE Select ENSP00000383199.2:n.49-16229G>A
ENST00000585594.6:n.26-16229G>A
ENST00000674613.1:n.98-95868G>A
ENST00000674845.1:c.*555-16229G>A ENSP00000502309.1:n.*555-16229G>A
ENST00000675137.1:n.171-16229G>A
ENST00000675147.1:c.28-16229G>A ENSP00000501840.1:n.28-16229G>A
ENST00000675227.1:c.95-16229G>A ENSP00000502649.1:n.95-16229G>A
ENST00000675502.1:c.-315-16229G>A ENSP00000502428.1:n.-315-16229G>A
ENST00000675554.1:n.165-16229G>A
ENST00000675801.1:c.-315-16229G>A ENSP00000502688.1:n.-315-16229G>A
ENST00000676024.1:c.49-16229G>A ENSP00000502105.1:n.49-16229G>A
ENST00000676223.1:c.10-16229G>A ENSP00000502361.1:n.10-16229G>A
ENST00000256830.13:n.49-16229G>A ENSP00000256830.8:n.49-16229G>A
ENST00000356462.10:c.49-16229G>A ENSP00000348847.5:n.49-16229G>A
ENST00000357895.9:c.24G>A ENSP00000350569.4:p.Gln8=
ENST00000382850.8:c.49-16229G>A ENSP00000372301.3:n.49-16229G>A
ENST00000400345.7:c.49-16229G>A ENSP00000383199.2:n.49-16229G>A
ENST00000435432.6:c.-404G>A ENSP00000393395.1:n.-404G>A
ENST00000456986.5:c.-315-16229G>A ENSP00000411947.1:n.-315-16229G>A
ENST00000585363.5:n.86-16229G>A
ENST00000585594.5:n.169-16229G>A
ENST00000586263.5:c.24G>A ENSP00000468546.1:p.Gln8=
ENST00000587547.1:n.838-16229G>A
ENST00000588516.5:n.1149-16229G>A
ENST00000589054.5:c.48+104851G>A ENSP00000465669.1:n.48+104851G>A
ENST00000590694.5:n.92-16229G>A
ENST00000591579.5:n.93-16229G>A
ENST00000591989.5:n.101-16233G>A
ENST00000592846.5:c.-370-16233G>A ENSP00000466776.1:n.-370-16233G>A
NM_001144964.1:c.-315-16229G>A NP_001138436.1:n.-315-16229G>A
NM_001144965.1:c.-326G>A NP_001138437.1:n.-326G>A
NM_001144967.2:c.49-16229G>A NP_001138439.1:n.49-16229G>A
NM_001144968.1:c.24G>A NP_001138440.1:p.Gln8=
NM_001144969.1:c.24G>A NP_001138441.1:p.Gln8=
NM_001144971.1:c.-404G>A NP_001138443.1:n.-404G>A
NM_001243960.1:c.49-16229G>A NP_001230889.1:n.49-16229G>A
NM_015277.5:c.49-16229G>A NP_056092.2:n.49-16229G>A
XM_006722426.2:c.49-16229G>A XP_006722489.1:n.49-16229G>A
XM_006722428.2:c.49-16229G>A XP_006722491.1:n.49-16229G>A
XM_011525887.1:c.24G>A XP_011524189.1:p.Gln8=
XM_006722426.4:c.49-16229G>A XP_006722489.1:n.49-16229G>A
XM_006722428.4:c.49-16229G>A XP_006722491.1:n.49-16229G>A
XM_011525887.3:c.24G>A XP_011524189.1:p.Gln8=
XM_017025678.2:c.49-16229G>A XP_016881167.1:n.49-16229G>A
XM_024451129.1:c.-393-16229G>A XP_024306897.1:n.-393-16229G>A
XM_024451131.1:c.-315-16229G>A XP_024306899.1:n.-315-16229G>A
XM_024451134.1:c.-385G>A XP_024306902.1:n.-385G>A
XM_024451135.1:c.-315-16229G>A XP_024306903.1:n.-315-16229G>A
XM_024451136.1:c.-315-16229G>A XP_024306904.1:n.-315-16229G>A
XM_024451137.1:c.-393-16229G>A XP_024306905.1:n.-393-16229G>A
NM_001144967.3:c.49-16229G>A MANE Select NP_001138439.1:n.49-16229G>A
NM_001144965.2:c.-326G>A NP_001138437.1:n.-326G>A
NM_001144968.2:c.24G>A NP_001138440.1:p.Gln8=
NM_001144969.2:c.24G>A NP_001138441.1:p.Gln8=
NM_001144971.2:c.-404G>A NP_001138443.1:n.-404G>A
NM_001243960.2:c.49-16229G>A NP_001230889.1:n.49-16229G>A
NM_015277.6:c.49-16229G>A NP_056092.2:n.49-16229G>A