Canonical Allele Identifier: CA402715270

Gene: NEDD4L

Linked Data

• ClinVar Variation Id: 2002919
• ClinVar RCV Id: RCV002824950
• MyVariant Identifiers: chr18:g.55833054C>T (hg19) ; chr18:g.58165822C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.58165822C>T , CM000680.2:g.58165822C>T	GRCh38
NC_000018.9:g.55833054C>T , CM000680.1:g.55833054C>T	GRCh37
NC_000018.8:g.53984052C>T	NCBI36
NG_029954.1:g.126445C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400345.8:c.83C>T MANE Select	ENSP00000383199.2:p.Ser28Phe
ENST00000585594.6:n.60C>T
ENST00000674613.1:n.98-79605C>T
ENST00000674845.1:c.*589C>T	ENSP00000502309.1:n.*589C>T
ENST00000675137.1:n.205C>T
ENST00000675147.1:c.62C>T	ENSP00000501840.1:p.Ser21Phe
ENST00000675502.1:c.-281C>T	ENSP00000502428.1:n.-281C>T
ENST00000675801.1:c.-281C>T	ENSP00000502688.1:n.-281C>T
ENST00000676024.1:c.83C>T	ENSP00000502105.1:p.Ser28Phe
ENST00000676223.1:c.44C>T	ENSP00000502361.1:p.Ser15Phe
ENST00000256830.13:c.83C>T	ENSP00000256830.8:p.Ser28Phe
ENST00000356462.10:c.83C>T	ENSP00000348847.5:p.Ser28Phe
ENST00000357895.9:c.59C>T	ENSP00000350569.4:p.Ser20Phe
ENST00000382850.8:c.83C>T	ENSP00000372301.3:p.Ser28Phe
ENST00000400345.7:c.83C>T	ENSP00000383199.2:p.Ser28Phe
ENST00000435432.6:c.-359C>T	ENSP00000393395.1:n.-359C>T
ENST00000456986.5:c.-281C>T	ENSP00000411947.1:n.-281C>T
ENST00000585363.5:n.120C>T
ENST00000585594.5:n.203C>T
ENST00000586263.5:c.59C>T	ENSP00000468546.1:p.Ser20Phe
ENST00000587547.1:n.872C>T
ENST00000588516.5:n.1183C>T
ENST00000589054.5:c.48+121114C>T	ENSP00000465669.1:n.48+121114C>T
ENST00000590694.5:n.126C>T
ENST00000591579.5:n.127C>T
ENST00000591989.5:n.131C>T
ENST00000592846.5:c.-340C>T	ENSP00000466776.1:n.-340C>T
NM_001144964.1:c.-281C>T	NP_001138436.1:n.-281C>T
NM_001144965.1:c.-281C>T	NP_001138437.1:n.-281C>T
NM_001144967.2:c.83C>T	NP_001138439.1:p.Ser28Phe
NM_001144968.1:c.59C>T	NP_001138440.1:p.Ser20Phe
NM_001144969.1:c.59C>T	NP_001138441.1:p.Ser20Phe
NM_001144971.1:c.-359C>T	NP_001138443.1:n.-359C>T
NM_001243960.1:c.83C>T	NP_001230889.1:p.Ser28Phe
NM_015277.5:c.83C>T	NP_056092.2:p.Ser28Phe
XM_006722426.2:c.83C>T	XP_006722489.1:p.Ser28Phe
XM_006722428.2:c.83C>T	XP_006722491.1:p.Ser28Phe
XM_011525887.1:c.59C>T	XP_011524189.1:p.Ser20Phe
XM_006722426.4:c.83C>T	XP_006722489.1:p.Ser28Phe
XM_006722428.4:c.83C>T	XP_006722491.1:p.Ser28Phe
XM_011525887.3:c.59C>T	XP_011524189.1:p.Ser20Phe
XM_017025678.2:c.83C>T	XP_016881167.1:p.Ser28Phe
XM_024451129.1:c.-359C>T	XP_024306897.1:n.-359C>T
XM_024451131.1:c.-281C>T	XP_024306899.1:n.-281C>T
XM_024451134.1:c.-340C>T	XP_024306902.1:n.-340C>T
XM_024451135.1:c.-281C>T	XP_024306903.1:n.-281C>T
XM_024451136.1:c.-281C>T	XP_024306904.1:n.-281C>T
XM_024451137.1:c.-359C>T	XP_024306905.1:n.-359C>T
NM_001144967.3:c.83C>T MANE Select	NP_001138439.1:p.Ser28Phe
NM_001144965.2:c.-281C>T	NP_001138437.1:n.-281C>T
NM_001144968.2:c.59C>T	NP_001138440.1:p.Ser20Phe
NM_001144969.2:c.59C>T	NP_001138441.1:p.Ser20Phe
NM_001144971.2:c.-359C>T	NP_001138443.1:n.-359C>T
NM_001243960.2:c.83C>T	NP_001230889.1:p.Ser28Phe
NM_015277.6:c.83C>T	NP_056092.2:p.Ser28Phe