Canonical Allele Identifier: CA357874624

Gene: EGF

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.110004540C>G , CM000666.2:g.110004540C>G	GRCh38
NC_000004.11:g.110925696C>G , CM000666.1:g.110925696C>G	GRCh37
NC_000004.10:g.111145145C>G	NCBI36
NG_011441.1:g.96657C>G
NG_011441.2:g.96657C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265171.10:c.3209C>G MANE Select	ENSP00000265171.5:p.Pro1070Arg
ENST00000652245.1:c.2840C>G	ENSP00000498337.1:p.Pro947Arg
ENST00000265171.9:c.3209C>G	ENSP00000265171.5:p.Pro1070Arg
ENST00000503392.1:c.3086C>G	ENSP00000421384.1:p.Pro1029Arg
ENST00000509793.5:c.3083C>G	ENSP00000424316.1:p.Pro1028Arg
ENST00000509996.1:n.894C>G
ENST00000537316.5:n.40C>G
ENST00000540840.1:n.40C>G
ENST00000544918.1:n.294C>G
NM_001178130.1:c.3086C>G	NP_001171601.1:p.Pro1029Arg
NM_001178131.1:c.3083C>G	NP_001171602.1:p.Pro1028Arg
NM_001963.4:c.3209C>G	NP_001954.2:p.Pro1070Arg
XM_005262796.2:c.3209C>G	XP_005262853.1:p.Pro1070Arg
XM_005262797.2:c.3083C>G	XP_005262854.1:p.Pro1028Arg
XM_005262798.2:c.2966C>G	XP_005262855.1:p.Pro989Arg
XM_005262800.2:c.2966C>G	XP_005262857.1:p.Pro989Arg
XM_005262801.2:c.2492-6662C>G	XP_005262858.1:n.2492-6662C>G
XM_006714124.2:c.3209C>G	XP_006714187.1:p.Pro1070Arg
XM_011531707.1:c.3098C>G	XP_011530009.1:p.Pro1033Arg
XR_427532.2:n.3223C>G
XR_938699.1:n.3223C>G
NM_001178130.2:c.3086C>G	NP_001171601.1:p.Pro1029Arg
NM_001178131.2:c.3083C>G	NP_001171602.1:p.Pro1028Arg
NM_001357021.1:c.2840C>G	NP_001343950.1:p.Pro947Arg
NM_001963.5:c.3209C>G	NP_001954.2:p.Pro1070Arg
XM_017007845.1:c.3233C>G	XP_016863334.1:p.Pro1078Arg
XM_017007846.1:c.3233C>G	XP_016863335.1:p.Pro1078Arg
XM_017007847.1:c.3110C>G	XP_016863336.1:p.Pro1037Arg
XM_017007848.1:c.3107C>G	XP_016863337.1:p.Pro1036Arg
XM_017007849.1:c.2990C>G	XP_016863338.1:p.Pro997Arg
XM_017007850.1:c.3233C>G	XP_016863339.1:p.Pro1078Arg
XM_017007851.1:c.2990C>G	XP_016863340.1:p.Pro997Arg
XR_001741156.1:n.3247C>G
XR_001741157.1:n.3247C>G
NM_001178130.3:c.3086C>G	NP_001171601.1:p.Pro1029Arg
NM_001178131.3:c.3083C>G	NP_001171602.1:p.Pro1028Arg
NM_001357021.2:c.2840C>G	NP_001343950.1:p.Pro947Arg
NM_001963.6:c.3209C>G MANE Select	NP_001954.2:p.Pro1070Arg