Canonical Allele Identifier: CA402715199

Gene: NEDD4L

Linked Data

• ClinVar Variation Id: 1381856
• ClinVar RCV Id: RCV001922076
• dbSNP Id: rs2146617418
• MyVariant Identifiers: chr18:g.55833020G>A (hg19) ; chr18:g.58165788G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.58165788G>A , CM000680.2:g.58165788G>A	GRCh38
NC_000018.9:g.55833020G>A , CM000680.1:g.55833020G>A	GRCh37
NC_000018.8:g.53984018G>A	NCBI36
NG_029954.1:g.126411G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400345.8:c.49G>A MANE Select	ENSP00000383199.2:p.Gly17Arg
ENST00000585594.6:n.26G>A
ENST00000674613.1:n.98-79639G>A
ENST00000674845.1:c.*555G>A	ENSP00000502309.1:n.*555G>A
ENST00000675137.1:n.171G>A
ENST00000675147.1:c.28G>A	ENSP00000501840.1:p.Gly10Arg
ENST00000675227.1:c.95G>A	ENSP00000502649.1:p.Gly32Glu
ENST00000675502.1:c.-315G>A	ENSP00000502428.1:n.-315G>A
ENST00000675554.1:n.165G>A
ENST00000675801.1:c.-315G>A	ENSP00000502688.1:n.-315G>A
ENST00000676024.1:c.49G>A	ENSP00000502105.1:p.Gly17Arg
ENST00000676223.1:c.10G>A	ENSP00000502361.1:p.Gly4Arg
ENST00000256830.13:c.49G>A	ENSP00000256830.8:p.Gly17Arg
ENST00000356462.10:c.49G>A	ENSP00000348847.5:p.Gly17Arg
ENST00000357895.9:c.25G>A	ENSP00000350569.4:p.Gly9Arg
ENST00000382850.8:c.49G>A	ENSP00000372301.3:p.Gly17Arg
ENST00000400345.7:c.49G>A	ENSP00000383199.2:p.Gly17Arg
ENST00000435432.6:c.-393G>A	ENSP00000393395.1:n.-393G>A
ENST00000456986.5:c.-315G>A	ENSP00000411947.1:n.-315G>A
ENST00000585363.5:n.86G>A
ENST00000585594.5:n.169G>A
ENST00000586263.5:c.25G>A	ENSP00000468546.1:p.Gly9Arg
ENST00000587547.1:n.838G>A
ENST00000588516.5:n.1149G>A
ENST00000589054.5:c.48+121080G>A	ENSP00000465669.1:n.48+121080G>A
ENST00000590694.5:n.92G>A
ENST00000591579.5:n.93G>A
ENST00000591989.5:n.101-4G>A
ENST00000592846.5:c.-370-4G>A	ENSP00000466776.1:n.-370-4G>A
NM_001144964.1:c.-315G>A	NP_001138436.1:n.-315G>A
NM_001144965.1:c.-315G>A	NP_001138437.1:n.-315G>A
NM_001144967.2:c.49G>A	NP_001138439.1:p.Gly17Arg
NM_001144968.1:c.25G>A	NP_001138440.1:p.Gly9Arg
NM_001144969.1:c.25G>A	NP_001138441.1:p.Gly9Arg
NM_001144971.1:c.-393G>A	NP_001138443.1:n.-393G>A
NM_001243960.1:c.49G>A	NP_001230889.1:p.Gly17Arg
NM_015277.5:c.49G>A	NP_056092.2:p.Gly17Arg
XM_006722426.2:c.49G>A	XP_006722489.1:p.Gly17Arg
XM_006722428.2:c.49G>A	XP_006722491.1:p.Gly17Arg
XM_011525887.1:c.25G>A	XP_011524189.1:p.Gly9Arg
XM_006722426.4:c.49G>A	XP_006722489.1:p.Gly17Arg
XM_006722428.4:c.49G>A	XP_006722491.1:p.Gly17Arg
XM_011525887.3:c.25G>A	XP_011524189.1:p.Gly9Arg
XM_017025678.2:c.49G>A	XP_016881167.1:p.Gly17Arg
XM_024451129.1:c.-393G>A	XP_024306897.1:n.-393G>A
XM_024451131.1:c.-315G>A	XP_024306899.1:n.-315G>A
XM_024451134.1:c.-374G>A	XP_024306902.1:n.-374G>A
XM_024451135.1:c.-315G>A	XP_024306903.1:n.-315G>A
XM_024451136.1:c.-315G>A	XP_024306904.1:n.-315G>A
XM_024451137.1:c.-393G>A	XP_024306905.1:n.-393G>A
NM_001144967.3:c.49G>A MANE Select	NP_001138439.1:p.Gly17Arg
NM_001144965.2:c.-315G>A	NP_001138437.1:n.-315G>A
NM_001144968.2:c.25G>A	NP_001138440.1:p.Gly9Arg
NM_001144969.2:c.25G>A	NP_001138441.1:p.Gly9Arg
NM_001144971.2:c.-393G>A	NP_001138443.1:n.-393G>A
NM_001243960.2:c.49G>A	NP_001230889.1:p.Gly17Arg
NM_015277.6:c.49G>A	NP_056092.2:p.Gly17Arg