Canonical Allele Identifier: CA440590426

Gene: EGF

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.109963213C>T , CM000666.2:g.109963213C>T	GRCh38
NC_000004.11:g.110884369C>T , CM000666.1:g.110884369C>T	GRCh37
NC_000004.10:g.111103818C>T	NCBI36
NG_011441.1:g.55330C>T
NG_011441.2:g.55330C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001963.6:c.1353C>T MANE Select	NP_001954.2:p.Cys451=
ENST00000265171.10:c.1353C>T MANE Select	ENSP00000265171.5:p.Cys451=
NM_001178130.1:c.1353C>T	NP_001171601.1:p.Cys451=
NM_001178130.2:c.1353C>T	NP_001171601.1:p.Cys451=
NM_001178130.3:c.1353C>T	NP_001171601.1:p.Cys451=
NM_001178131.1:c.1227C>T	NP_001171602.1:p.Cys409=
NM_001178131.2:c.1227C>T	NP_001171602.1:p.Cys409=
NM_001178131.3:c.1227C>T	NP_001171602.1:p.Cys409=
NM_001357021.1:c.1227C>T	NP_001343950.1:p.Cys409=
NM_001357021.2:c.1227C>T	NP_001343950.1:p.Cys409=
NM_001963.4:c.1353C>T	NP_001954.2:p.Cys451=
NM_001963.5:c.1353C>T	NP_001954.2:p.Cys451=
ENST00000265171.9:c.1353C>T	ENSP00000265171.5:p.Cys451=
ENST00000503392.1:c.1353C>T	ENSP00000421384.1:p.Cys451=
ENST00000509793.5:c.1227C>T	ENSP00000424316.1:p.Cys409=
ENST00000652245.1:c.1227C>T	ENSP00000498337.1:p.Cys409=
XM_005262796.2:c.1353C>T	XP_005262853.1:p.Cys451=
XM_005262797.2:c.1227C>T	XP_005262854.1:p.Cys409=
XM_005262798.2:c.1353C>T	XP_005262855.1:p.Cys451=
XM_005262800.2:c.1353C>T	XP_005262857.1:p.Cys451=
XM_005262801.2:c.1353C>T	XP_005262858.1:p.Cys451=
XM_005262802.2:c.1353C>T	XP_005262859.1:p.Cys451=
XM_006714124.2:c.1353C>T	XP_006714187.1:p.Cys451=
XM_011531707.1:c.1242C>T	XP_011530009.1:p.Cys414=
XM_011531708.1:c.1353C>T	XP_011530010.1:p.Cys451=
XM_011531709.1:c.1353C>T	XP_011530011.1:p.Cys451=
XM_017007845.1:c.1377C>T	XP_016863334.1:p.Cys459=
XM_017007846.1:c.1377C>T	XP_016863335.1:p.Cys459=
XM_017007847.1:c.1377C>T	XP_016863336.1:p.Cys459=
XM_017007848.1:c.1251C>T	XP_016863337.1:p.Cys417=
XM_017007849.1:c.1377C>T	XP_016863338.1:p.Cys459=
XM_017007850.1:c.1377C>T	XP_016863339.1:p.Cys459=
XM_017007851.1:c.1377C>T	XP_016863340.1:p.Cys459=
XM_017007853.1:c.1377C>T	XP_016863342.1:p.Cys459=
XM_017007854.1:c.1377C>T	XP_016863343.1:p.Cys459=
XM_017007855.1:c.1377C>T	XP_016863344.1:p.Cys459=
XR_001741156.1:n.1830C>T
XR_001741157.1:n.1830C>T
XR_427532.2:n.1806C>T
XR_938699.1:n.1806C>T