Canonical Allele Identifier: CA2641962849

Gene: NEDD4L

Linked Data

• gnomAD v4: 18-58195518-A-T

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.58195518A>T , CM000680.2:g.58195518A>T	GRCh38
NC_000018.9:g.55862750A>T , CM000680.1:g.55862750A>T	GRCh37
NC_000018.8:g.54013748A>T	NCBI36
NG_029954.1:g.156141A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000400345.8:c.122+29657A>T MANE Select	ENSP00000383199.2:n.122+29657A>T
ENST00000674613.1:n.98-49909A>T
ENST00000674845.1:c.*628+29657A>T	ENSP00000502309.1:n.*628+29657A>T
ENST00000675137.1:n.244+29657A>T
ENST00000675147.1:c.101+29657A>T	ENSP00000501840.1:n.101+29657A>T
ENST00000675502.1:c.-242+29657A>T	ENSP00000502428.1:n.-242+29657A>T
ENST00000675801.1:c.-242+29657A>T	ENSP00000502688.1:n.-242+29657A>T
ENST00000675865.1:c.-375A>T	ENSP00000502003.1:n.-375A>T
ENST00000676024.1:c.122+29657A>T	ENSP00000502105.1:n.122+29657A>T
ENST00000676223.1:c.83+29657A>T	ENSP00000502361.1:n.83+29657A>T
ENST00000676226.1:c.-418A>T	ENSP00000502325.1:n.-418A>T
ENST00000676251.1:n.89A>T
ENST00000256830.13:c.122+29657A>T	ENSP00000256830.8:n.122+29657A>T
ENST00000356462.10:c.122+29657A>T	ENSP00000348847.5:n.122+29657A>T
ENST00000357895.9:c.98+29657A>T	ENSP00000350569.4:n.98+29657A>T
ENST00000382850.8:c.122+29657A>T	ENSP00000372301.3:n.122+29657A>T
ENST00000400345.7:c.122+29657A>T	ENSP00000383199.2:n.122+29657A>T
ENST00000435432.6:c.-320+29657A>T	ENSP00000393395.1:n.-320+29657A>T
ENST00000456173.6:c.-457A>T	ENSP00000405440.1:n.-457A>T
ENST00000456986.5:c.-242+29657A>T	ENSP00000411947.1:n.-242+29657A>T
ENST00000585363.5:n.159+29657A>T
ENST00000586263.5:c.98+29657A>T	ENSP00000468546.1:n.98+29657A>T
ENST00000588516.5:n.1222+29657A>T
ENST00000589054.5:c.48+150810A>T	ENSP00000465669.1:n.48+150810A>T
ENST00000591989.5:n.170+29657A>T
ENST00000592846.5:c.-301+29657A>T	ENSP00000466776.1:n.-301+29657A>T
NM_001144964.1:c.-242+29657A>T	NP_001138436.1:n.-242+29657A>T
NM_001144965.1:c.-242+29657A>T	NP_001138437.1:n.-242+29657A>T
NM_001144967.2:c.122+29657A>T	NP_001138439.1:n.122+29657A>T
NM_001144968.1:c.98+29657A>T	NP_001138440.1:n.98+29657A>T
NM_001144969.1:c.98+29657A>T	NP_001138441.1:n.98+29657A>T
NM_001144970.2:c.-457A>T	NP_001138442.1:n.-457A>T
NM_001144971.1:c.-320+29657A>T	NP_001138443.1:n.-320+29657A>T
NM_001243960.1:c.122+29657A>T	NP_001230889.1:n.122+29657A>T
NM_015277.5:c.122+29657A>T	NP_056092.2:n.122+29657A>T
XM_006722426.2:c.122+29657A>T	XP_006722489.1:n.122+29657A>T
XM_006722428.2:c.122+29657A>T	XP_006722491.1:n.122+29657A>T
XM_006722430.2:c.-457A>T	XP_006722493.1:n.-457A>T
XM_011525887.1:c.98+29657A>T	XP_011524189.1:n.98+29657A>T
XR_935527.1:n.112+81T>A
XR_935528.1:n.112+81T>A
XR_935529.1:n.157+2T>A
XR_935530.1:n.98+81T>A
XM_006722426.4:c.122+29657A>T	XP_006722489.1:n.122+29657A>T
XM_006722428.4:c.122+29657A>T	XP_006722491.1:n.122+29657A>T
XM_006722430.4:c.-457A>T	XP_006722493.1:n.-457A>T
XM_011525887.3:c.98+29657A>T	XP_011524189.1:n.98+29657A>T
XM_017025678.2:c.122+29657A>T	XP_016881167.1:n.122+29657A>T
XM_017025679.2:c.-457A>T	XP_016881168.1:n.-457A>T
XM_017025680.2:c.-457A>T	XP_016881169.1:n.-457A>T
XM_017025681.2:c.-457A>T	XP_016881170.1:n.-457A>T
XM_024451129.1:c.-320+29657A>T	XP_024306897.1:n.-320+29657A>T
XM_024451131.1:c.-242+29657A>T	XP_024306899.1:n.-242+29657A>T
XM_024451134.1:c.-301+29657A>T	XP_024306902.1:n.-301+29657A>T
XM_024451135.1:c.-242+29657A>T	XP_024306903.1:n.-242+29657A>T
XM_024451136.1:c.-242+29657A>T	XP_024306904.1:n.-242+29657A>T
XM_024451137.1:c.-320+29657A>T	XP_024306905.1:n.-320+29657A>T
XR_935527.2:n.107+81T>A
XR_935528.2:n.107+81T>A
XR_935529.2:n.157+2T>A
NM_001144967.3:c.122+29657A>T MANE Select	NP_001138439.1:n.122+29657A>T
NM_001144965.2:c.-242+29657A>T	NP_001138437.1:n.-242+29657A>T
NM_001144968.2:c.98+29657A>T	NP_001138440.1:n.98+29657A>T
NM_001144969.2:c.98+29657A>T	NP_001138441.1:n.98+29657A>T
NM_001144970.3:c.-457A>T	NP_001138442.1:n.-457A>T
NM_001144971.2:c.-320+29657A>T	NP_001138443.1:n.-320+29657A>T
NM_001243960.2:c.122+29657A>T	NP_001230889.1:n.122+29657A>T
NM_015277.6:c.122+29657A>T	NP_056092.2:n.122+29657A>T