Canonical Allele Identifier: CA3044086

Gene: EGF

Linked Data

• ClinVar Variation Id: 347252
• ClinVar RCV Id: RCV001636968
• dbSNP Id: rs4698803
• ExAC: 4:110914427 A / T
• gnomAD v2: 4-110914427-A-T
• gnomAD v3: 4-109993271-A-T
• gnomAD v4: 4-109993271-A-T
• MyVariant Identifiers: chr4:g.110914427A>T (hg19) ; chr4:g.109993271A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.109993271A>T , CM000666.2:g.109993271A>T	GRCh38
NC_000004.11:g.110914427A>T , CM000666.1:g.110914427A>T	GRCh37
NC_000004.10:g.111133876A>T	NCBI36
NG_011441.1:g.85388A>T
NG_011441.2:g.85388A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000265171.10:c.2759A>T MANE Select	ENSP00000265171.5:p.Glu920Val
ENST00000652245.1:c.2390A>T	ENSP00000498337.1:p.Glu797Val
ENST00000265171.9:c.2759A>T	ENSP00000265171.5:p.Glu920Val
ENST00000503392.1:c.2735-1462A>T	ENSP00000421384.1:n.2735-1462A>T
ENST00000509793.5:c.2633A>T	ENSP00000424316.1:p.Glu878Val
ENST00000509996.1:n.444A>T
NM_001178130.1:c.2735-1462A>T	NP_001171601.1:n.2735-1462A>T
NM_001178131.1:c.2633A>T	NP_001171602.1:p.Glu878Val
NM_001963.4:c.2759A>T	NP_001954.2:p.Glu920Val
XM_005262796.2:c.2759A>T	XP_005262853.1:p.Glu920Val
XM_005262797.2:c.2633A>T	XP_005262854.1:p.Glu878Val
XM_005262798.2:c.2516A>T	XP_005262855.1:p.Glu839Val
XM_005262800.2:c.2516A>T	XP_005262857.1:p.Glu839Val
XM_005262801.2:c.2491+9730A>T	XP_005262858.1:n.2491+9730A>T
XM_006714124.2:c.2759A>T	XP_006714187.1:p.Glu920Val
XM_011531707.1:c.2648A>T	XP_011530009.1:p.Glu883Val
XM_011531708.1:c.2734+4562A>T	XP_011530010.1:n.2734+4562A>T
XR_427532.2:n.3187+4562A>T
XR_938699.1:n.3187+4562A>T
NM_001178130.2:c.2735-1462A>T	NP_001171601.1:n.2735-1462A>T
NM_001178131.2:c.2633A>T	NP_001171602.1:p.Glu878Val
NM_001357021.1:c.2390A>T	NP_001343950.1:p.Glu797Val
NM_001963.5:c.2759A>T	NP_001954.2:p.Glu920Val
XM_017007845.1:c.2783A>T	XP_016863334.1:p.Glu928Val
XM_017007846.1:c.2783A>T	XP_016863335.1:p.Glu928Val
XM_017007847.1:c.2759-1462A>T	XP_016863336.1:n.2759-1462A>T
XM_017007848.1:c.2657A>T	XP_016863337.1:p.Glu886Val
XM_017007849.1:c.2540A>T	XP_016863338.1:p.Glu847Val
XM_017007850.1:c.2783A>T	XP_016863339.1:p.Glu928Val
XM_017007851.1:c.2540A>T	XP_016863340.1:p.Glu847Val
XM_017007853.1:c.2758+4562A>T	XP_016863342.1:n.2758+4562A>T
XR_001741156.1:n.3211+4562A>T
XR_001741157.1:n.3211+4562A>T
NM_001178130.3:c.2735-1462A>T	NP_001171601.1:n.2735-1462A>T
NM_001178131.3:c.2633A>T	NP_001171602.1:p.Glu878Val
NM_001357021.2:c.2390A>T	NP_001343950.1:p.Glu797Val
NM_001963.6:c.2759A>T MANE Select	NP_001954.2:p.Glu920Val