Canonical Allele Identifier: CA8975114

Gene: NEDD4L

Linked Data

• dbSNP Id: rs370078893
• ExAC: 18:55833027 C / A
• gnomAD v2: 18-55833027-C-A
• MyVariant Identifiers: chr18:g.55833027C>A (hg19) ; chr18:g.58165795C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.58165795C>A , CM000680.2:g.58165795C>A	GRCh38
NC_000018.9:g.55833027C>A , CM000680.1:g.55833027C>A	GRCh37
NC_000018.8:g.53984025C>A	NCBI36
NG_029954.1:g.126418C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400345.8:c.56C>A MANE Select	ENSP00000383199.2:p.Ser19Tyr
ENST00000585594.6:n.33C>A
ENST00000674613.1:n.98-79632C>A
ENST00000674845.1:c.*562C>A	ENSP00000502309.1:n.*562C>A
ENST00000675137.1:n.178C>A
ENST00000675147.1:c.35C>A	ENSP00000501840.1:p.Ser12Tyr
ENST00000675227.1:c.102C>A	ENSP00000502649.1:p.Val34=
ENST00000675502.1:c.-308C>A	ENSP00000502428.1:n.-308C>A
ENST00000675554.1:n.172C>A
ENST00000675801.1:c.-308C>A	ENSP00000502688.1:n.-308C>A
ENST00000676024.1:c.56C>A	ENSP00000502105.1:p.Ser19Tyr
ENST00000676223.1:c.17C>A	ENSP00000502361.1:p.Ser6Tyr
ENST00000256830.13:c.56C>A	ENSP00000256830.8:p.Ser19Tyr
ENST00000356462.10:c.56C>A	ENSP00000348847.5:p.Ser19Tyr
ENST00000357895.9:c.32C>A	ENSP00000350569.4:p.Ser11Tyr
ENST00000382850.8:c.56C>A	ENSP00000372301.3:p.Ser19Tyr
ENST00000400345.7:c.56C>A	ENSP00000383199.2:p.Ser19Tyr
ENST00000435432.6:c.-386C>A	ENSP00000393395.1:n.-386C>A
ENST00000456986.5:c.-308C>A	ENSP00000411947.1:n.-308C>A
ENST00000585363.5:n.93C>A
ENST00000585594.5:n.176C>A
ENST00000586263.5:c.32C>A	ENSP00000468546.1:p.Ser11Tyr
ENST00000587547.1:n.845C>A
ENST00000588516.5:n.1156C>A
ENST00000589054.5:c.48+121087C>A	ENSP00000465669.1:n.48+121087C>A
ENST00000590694.5:n.99C>A
ENST00000591579.5:n.100C>A
ENST00000591989.5:n.104C>A
ENST00000592846.5:c.-367C>A	ENSP00000466776.1:n.-367C>A
NM_001144964.1:c.-308C>A	NP_001138436.1:n.-308C>A
NM_001144965.1:c.-308C>A	NP_001138437.1:n.-308C>A
NM_001144967.2:c.56C>A	NP_001138439.1:p.Ser19Tyr
NM_001144968.1:c.32C>A	NP_001138440.1:p.Ser11Tyr
NM_001144969.1:c.32C>A	NP_001138441.1:p.Ser11Tyr
NM_001144971.1:c.-386C>A	NP_001138443.1:n.-386C>A
NM_001243960.1:c.56C>A	NP_001230889.1:p.Ser19Tyr
NM_015277.5:c.56C>A	NP_056092.2:p.Ser19Tyr
XM_006722426.2:c.56C>A	XP_006722489.1:p.Ser19Tyr
XM_006722428.2:c.56C>A	XP_006722491.1:p.Ser19Tyr
XM_011525887.1:c.32C>A	XP_011524189.1:p.Ser11Tyr
XM_006722426.4:c.56C>A	XP_006722489.1:p.Ser19Tyr
XM_006722428.4:c.56C>A	XP_006722491.1:p.Ser19Tyr
XM_011525887.3:c.32C>A	XP_011524189.1:p.Ser11Tyr
XM_017025678.2:c.56C>A	XP_016881167.1:p.Ser19Tyr
XM_024451129.1:c.-386C>A	XP_024306897.1:n.-386C>A
XM_024451131.1:c.-308C>A	XP_024306899.1:n.-308C>A
XM_024451134.1:c.-367C>A	XP_024306902.1:n.-367C>A
XM_024451135.1:c.-308C>A	XP_024306903.1:n.-308C>A
XM_024451136.1:c.-308C>A	XP_024306904.1:n.-308C>A
XM_024451137.1:c.-386C>A	XP_024306905.1:n.-386C>A
NM_001144967.3:c.56C>A MANE Select	NP_001138439.1:p.Ser19Tyr
NM_001144965.2:c.-308C>A	NP_001138437.1:n.-308C>A
NM_001144968.2:c.32C>A	NP_001138440.1:p.Ser11Tyr
NM_001144969.2:c.32C>A	NP_001138441.1:p.Ser11Tyr
NM_001144971.2:c.-386C>A	NP_001138443.1:n.-386C>A
NM_001243960.2:c.56C>A	NP_001230889.1:p.Ser19Tyr
NM_015277.6:c.56C>A	NP_056092.2:p.Ser19Tyr