Canonical Allele Identifier: CA103745450

Gene: EGF

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.109987933C>T , CM000666.2:g.109987933C>T	GRCh38
NC_000004.11:g.110909089C>T , CM000666.1:g.110909089C>T	GRCh37
NC_000004.10:g.111128538C>T	NCBI36
NG_011441.1:g.80050C>T
NG_011441.2:g.80050C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001963.6:c.2608+73C>T MANE Select	NP_001954.2:n.2608+73C>T
ENST00000265171.10:c.2608+73C>T MANE Select	ENSP00000265171.5:n.2608+73C>T
NM_001178130.1:c.2608+73C>T	NP_001171601.1:n.2608+73C>T
NM_001178130.2:c.2608+73C>T	NP_001171601.1:n.2608+73C>T
NM_001178130.3:c.2608+73C>T	NP_001171601.1:n.2608+73C>T
NM_001178131.1:c.2482+73C>T	NP_001171602.1:n.2482+73C>T
NM_001178131.2:c.2482+73C>T	NP_001171602.1:n.2482+73C>T
NM_001178131.3:c.2482+73C>T	NP_001171602.1:n.2482+73C>T
NM_001357021.1:c.2365+4392C>T	NP_001343950.1:n.2365+4392C>T
NM_001357021.2:c.2365+4392C>T	NP_001343950.1:n.2365+4392C>T
NM_001963.4:c.2608+73C>T	NP_001954.2:n.2608+73C>T
NM_001963.5:c.2608+73C>T	NP_001954.2:n.2608+73C>T
ENST00000265171.9:c.2608+73C>T	ENSP00000265171.5:n.2608+73C>T
ENST00000503392.1:c.2608+73C>T	ENSP00000421384.1:n.2608+73C>T
ENST00000509793.5:c.2482+73C>T	ENSP00000424316.1:n.2482+73C>T
ENST00000509996.1:n.419+4392C>T
ENST00000652245.1:c.2365+4392C>T	ENSP00000498337.1:n.2365+4392C>T
XM_005262796.2:c.2608+73C>T	XP_005262853.1:n.2608+73C>T
XM_005262797.2:c.2482+73C>T	XP_005262854.1:n.2482+73C>T
XM_005262798.2:c.2491+4392C>T	XP_005262855.1:n.2491+4392C>T
XM_005262800.2:c.2491+4392C>T	XP_005262857.1:n.2491+4392C>T
XM_005262801.2:c.2491+4392C>T	XP_005262858.1:n.2491+4392C>T
XM_006714124.2:c.2608+73C>T	XP_006714187.1:n.2608+73C>T
XM_011531707.1:c.2497+73C>T	XP_011530009.1:n.2497+73C>T
XM_011531708.1:c.2608+73C>T	XP_011530010.1:n.2608+73C>T
XM_017007845.1:c.2632+73C>T	XP_016863334.1:n.2632+73C>T
XM_017007846.1:c.2632+73C>T	XP_016863335.1:n.2632+73C>T
XM_017007847.1:c.2632+73C>T	XP_016863336.1:n.2632+73C>T
XM_017007848.1:c.2506+73C>T	XP_016863337.1:n.2506+73C>T
XM_017007849.1:c.2515+4392C>T	XP_016863338.1:n.2515+4392C>T
XM_017007850.1:c.2632+73C>T	XP_016863339.1:n.2632+73C>T
XM_017007851.1:c.2515+4392C>T	XP_016863340.1:n.2515+4392C>T
XM_017007853.1:c.2632+73C>T	XP_016863342.1:n.2632+73C>T
XR_001741156.1:n.3085+73C>T
XR_001741157.1:n.3085+73C>T
XR_427532.2:n.3061+73C>T
XR_938699.1:n.3061+73C>T