Canonical Allele Identifier: CA357884958
Gene: EGF HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.109980871G>A , CM000666.2:g.109980871G>A GRCh38
NC_000004.11:g.110902027G>A , CM000666.1:g.110902027G>A GRCh37
NC_000004.10:g.111121476G>A NCBI36
NG_011441.1:g.72988G>A
NG_011441.2:g.72988G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000265171.10:c.2267G>A MANE Select ENSP00000265171.5:p.Cys756Tyr
ENST00000652245.1:c.2141G>A ENSP00000498337.1:p.Cys714Tyr
ENST00000265171.9:c.2267G>A ENSP00000265171.5:p.Cys756Tyr
ENST00000503392.1:c.2267G>A ENSP00000421384.1:p.Cys756Tyr
ENST00000509793.5:c.2141G>A ENSP00000424316.1:p.Cys714Tyr
ENST00000509996.1:n.195G>A
ENST00000511228.5:n.231G>A
NM_001178130.1:c.2267G>A NP_001171601.1:p.Cys756Tyr
NM_001178131.1:c.2141G>A NP_001171602.1:p.Cys714Tyr
NM_001963.4:c.2267G>A NP_001954.2:p.Cys756Tyr
XM_005262796.2:c.2267G>A XP_005262853.1:p.Cys756Tyr
XM_005262797.2:c.2141G>A XP_005262854.1:p.Cys714Tyr
XM_005262798.2:c.2267G>A XP_005262855.1:p.Cys756Tyr
XM_005262800.2:c.2267G>A XP_005262857.1:p.Cys756Tyr
XM_005262801.2:c.2267G>A XP_005262858.1:p.Cys756Tyr
XM_006714124.2:c.2267G>A XP_006714187.1:p.Cys756Tyr
XM_011531707.1:c.2156G>A XP_011530009.1:p.Cys719Tyr
XM_011531708.1:c.2267G>A XP_011530010.1:p.Cys756Tyr
XR_427532.2:n.2720G>A
XR_938699.1:n.2720G>A
NM_001178130.2:c.2267G>A NP_001171601.1:p.Cys756Tyr
NM_001178131.2:c.2141G>A NP_001171602.1:p.Cys714Tyr
NM_001357021.1:c.2141G>A NP_001343950.1:p.Cys714Tyr
NM_001963.5:c.2267G>A NP_001954.2:p.Cys756Tyr
XM_017007845.1:c.2291G>A XP_016863334.1:p.Cys764Tyr
XM_017007846.1:c.2291G>A XP_016863335.1:p.Cys764Tyr
XM_017007847.1:c.2291G>A XP_016863336.1:p.Cys764Tyr
XM_017007848.1:c.2165G>A XP_016863337.1:p.Cys722Tyr
XM_017007849.1:c.2291G>A XP_016863338.1:p.Cys764Tyr
XM_017007850.1:c.2291G>A XP_016863339.1:p.Cys764Tyr
XM_017007851.1:c.2291G>A XP_016863340.1:p.Cys764Tyr
XM_017007853.1:c.2291G>A XP_016863342.1:p.Cys764Tyr
XR_001741156.1:n.2744G>A
XR_001741157.1:n.2744G>A
NM_001178130.3:c.2267G>A NP_001171601.1:p.Cys756Tyr
NM_001178131.3:c.2141G>A NP_001171602.1:p.Cys714Tyr
NM_001357021.2:c.2141G>A NP_001343950.1:p.Cys714Tyr
NM_001963.6:c.2267G>A MANE Select NP_001954.2:p.Cys756Tyr