Canonical Allele Identifier: CA8975122

Gene: NEDD4L

Linked Data

• ClinVar Variation Id: 417015
• ClinVar RCV Id: RCV000458894 ; RCV002506156
• dbSNP Id: rs115907798
• ExAC: 18:55833102 G / C
• gnomAD v2: 18-55833102-G-C
• gnomAD v3: 18-58165870-G-C
• gnomAD v4: 18-58165870-G-C
• MyVariant Identifiers: chr18:g.55833102G>C (hg19) ; chr18:g.58165870G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.58165870G>C , CM000680.2:g.58165870G>C	GRCh38
NC_000018.9:g.55833102G>C , CM000680.1:g.55833102G>C	GRCh37
NC_000018.8:g.53984100G>C	NCBI36
NG_029954.1:g.126493G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400345.8:c.122+9G>C MANE Select	ENSP00000383199.2:n.122+9G>C
ENST00000585594.6:n.108G>C
ENST00000674613.1:n.98-79557G>C
ENST00000674845.1:c.*628+9G>C	ENSP00000502309.1:n.*628+9G>C
ENST00000675137.1:n.244+9G>C
ENST00000675147.1:c.101+9G>C	ENSP00000501840.1:n.101+9G>C
ENST00000675502.1:c.-242+9G>C	ENSP00000502428.1:n.-242+9G>C
ENST00000675801.1:c.-242+9G>C	ENSP00000502688.1:n.-242+9G>C
ENST00000676024.1:c.122+9G>C	ENSP00000502105.1:n.122+9G>C
ENST00000676223.1:c.83+9G>C	ENSP00000502361.1:n.83+9G>C
ENST00000256830.13:c.122+9G>C	ENSP00000256830.8:n.122+9G>C
ENST00000356462.10:c.122+9G>C	ENSP00000348847.5:n.122+9G>C
ENST00000357895.9:c.98+9G>C	ENSP00000350569.4:n.98+9G>C
ENST00000382850.8:c.122+9G>C	ENSP00000372301.3:n.122+9G>C
ENST00000400345.7:c.122+9G>C	ENSP00000383199.2:n.122+9G>C
ENST00000435432.6:c.-320+9G>C	ENSP00000393395.1:n.-320+9G>C
ENST00000456986.5:c.-242+9G>C	ENSP00000411947.1:n.-242+9G>C
ENST00000585363.5:n.159+9G>C
ENST00000586263.5:c.98+9G>C	ENSP00000468546.1:n.98+9G>C
ENST00000588516.5:n.1222+9G>C
ENST00000589054.5:c.48+121162G>C	ENSP00000465669.1:n.48+121162G>C
ENST00000591989.5:n.170+9G>C
ENST00000592846.5:c.-301+9G>C	ENSP00000466776.1:n.-301+9G>C
NM_001144964.1:c.-242+9G>C	NP_001138436.1:n.-242+9G>C
NM_001144965.1:c.-242+9G>C	NP_001138437.1:n.-242+9G>C
NM_001144967.2:c.122+9G>C	NP_001138439.1:n.122+9G>C
NM_001144968.1:c.98+9G>C	NP_001138440.1:n.98+9G>C
NM_001144969.1:c.98+9G>C	NP_001138441.1:n.98+9G>C
NM_001144971.1:c.-320+9G>C	NP_001138443.1:n.-320+9G>C
NM_001243960.1:c.122+9G>C	NP_001230889.1:n.122+9G>C
NM_015277.5:c.122+9G>C	NP_056092.2:n.122+9G>C
XM_006722426.2:c.122+9G>C	XP_006722489.1:n.122+9G>C
XM_006722428.2:c.122+9G>C	XP_006722491.1:n.122+9G>C
XM_011525887.1:c.98+9G>C	XP_011524189.1:n.98+9G>C
XM_006722426.4:c.122+9G>C	XP_006722489.1:n.122+9G>C
XM_006722428.4:c.122+9G>C	XP_006722491.1:n.122+9G>C
XM_011525887.3:c.98+9G>C	XP_011524189.1:n.98+9G>C
XM_017025678.2:c.122+9G>C	XP_016881167.1:n.122+9G>C
XM_024451129.1:c.-320+9G>C	XP_024306897.1:n.-320+9G>C
XM_024451131.1:c.-242+9G>C	XP_024306899.1:n.-242+9G>C
XM_024451134.1:c.-301+9G>C	XP_024306902.1:n.-301+9G>C
XM_024451135.1:c.-242+9G>C	XP_024306903.1:n.-242+9G>C
XM_024451136.1:c.-242+9G>C	XP_024306904.1:n.-242+9G>C
XM_024451137.1:c.-320+9G>C	XP_024306905.1:n.-320+9G>C
NM_001144967.3:c.122+9G>C MANE Select	NP_001138439.1:n.122+9G>C
NM_001144965.2:c.-242+9G>C	NP_001138437.1:n.-242+9G>C
NM_001144968.2:c.98+9G>C	NP_001138440.1:n.98+9G>C
NM_001144969.2:c.98+9G>C	NP_001138441.1:n.98+9G>C
NM_001144971.2:c.-320+9G>C	NP_001138443.1:n.-320+9G>C
NM_001243960.2:c.122+9G>C	NP_001230889.1:n.122+9G>C
NM_015277.6:c.122+9G>C	NP_056092.2:n.122+9G>C