Canonical Allele Identifier: CA3043939
Gene: EGF HGNC NCBI

Linked Data

ClinVar Variation Id: 347246
dbSNP Id: rs11569017

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.109980955A>T , CM000666.2:g.109980955A>T GRCh38
NC_000004.11:g.110902111A>T , CM000666.1:g.110902111A>T GRCh37
NC_000004.10:g.111121560A>T NCBI36
NG_011441.1:g.73072A>T
NG_011441.2:g.73072A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000265171.10:c.2351A>T MANE Select ENSP00000265171.5:p.Asp784Val
ENST00000652245.1:c.2225A>T ENSP00000498337.1:p.Asp742Val
ENST00000265171.9:c.2351A>T ENSP00000265171.5:p.Asp784Val
ENST00000503392.1:c.2351A>T ENSP00000421384.1:p.Asp784Val
ENST00000509793.5:c.2225A>T ENSP00000424316.1:p.Asp742Val
ENST00000509996.1:n.279A>T
ENST00000511228.5:n.315A>T
NM_001178130.1:c.2351A>T NP_001171601.1:p.Asp784Val
NM_001178131.1:c.2225A>T NP_001171602.1:p.Asp742Val
NM_001963.4:c.2351A>T NP_001954.2:p.Asp784Val
XM_005262796.2:c.2351A>T XP_005262853.1:p.Asp784Val
XM_005262797.2:c.2225A>T XP_005262854.1:p.Asp742Val
XM_005262798.2:c.2351A>T XP_005262855.1:p.Asp784Val
XM_005262800.2:c.2351A>T XP_005262857.1:p.Asp784Val
XM_005262801.2:c.2351A>T XP_005262858.1:p.Asp784Val
XM_006714124.2:c.2351A>T XP_006714187.1:p.Asp784Val
XM_011531707.1:c.2240A>T XP_011530009.1:p.Asp747Val
XM_011531708.1:c.2351A>T XP_011530010.1:p.Asp784Val
XR_427532.2:n.2804A>T
XR_938699.1:n.2804A>T
NM_001178130.2:c.2351A>T NP_001171601.1:p.Asp784Val
NM_001178131.2:c.2225A>T NP_001171602.1:p.Asp742Val
NM_001357021.1:c.2225A>T NP_001343950.1:p.Asp742Val
NM_001963.5:c.2351A>T NP_001954.2:p.Asp784Val
XM_017007845.1:c.2375A>T XP_016863334.1:p.Asp792Val
XM_017007846.1:c.2375A>T XP_016863335.1:p.Asp792Val
XM_017007847.1:c.2375A>T XP_016863336.1:p.Asp792Val
XM_017007848.1:c.2249A>T XP_016863337.1:p.Asp750Val
XM_017007849.1:c.2375A>T XP_016863338.1:p.Asp792Val
XM_017007850.1:c.2375A>T XP_016863339.1:p.Asp792Val
XM_017007851.1:c.2375A>T XP_016863340.1:p.Asp792Val
XM_017007853.1:c.2375A>T XP_016863342.1:p.Asp792Val
XR_001741156.1:n.2828A>T
XR_001741157.1:n.2828A>T
NM_001178130.3:c.2351A>T NP_001171601.1:p.Asp784Val
NM_001178131.3:c.2225A>T NP_001171602.1:p.Asp742Val
NM_001357021.2:c.2225A>T NP_001343950.1:p.Asp742Val
NM_001963.6:c.2351A>T MANE Select NP_001954.2:p.Asp784Val