Canonical Allele Identifier: CA3044180

Gene: EGF

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.109999800C>T , CM000666.2:g.109999800C>T	GRCh38
NC_000004.11:g.110920956C>T , CM000666.1:g.110920956C>T	GRCh37
NC_000004.10:g.111140405C>T	NCBI36
NG_011441.1:g.91917C>T
NG_011441.2:g.91917C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001963.6:c.3127C>T MANE Select	NP_001954.2:p.Leu1043Phe
ENST00000265171.10:c.3127C>T MANE Select	ENSP00000265171.5:p.Leu1043Phe
NM_001178130.1:c.3004C>T	NP_001171601.1:p.Leu1002Phe
NM_001178130.2:c.3004C>T	NP_001171601.1:p.Leu1002Phe
NM_001178130.3:c.3004C>T	NP_001171601.1:p.Leu1002Phe
NM_001178131.1:c.3001C>T	NP_001171602.1:p.Leu1001Phe
NM_001178131.2:c.3001C>T	NP_001171602.1:p.Leu1001Phe
NM_001178131.3:c.3001C>T	NP_001171602.1:p.Leu1001Phe
NM_001357021.1:c.2758C>T	NP_001343950.1:p.Leu920Phe
NM_001357021.2:c.2758C>T	NP_001343950.1:p.Leu920Phe
NM_001963.4:c.3127C>T	NP_001954.2:p.Leu1043Phe
NM_001963.5:c.3127C>T	NP_001954.2:p.Leu1043Phe
ENST00000265171.9:c.3127C>T	ENSP00000265171.5:p.Leu1043Phe
ENST00000503392.1:c.3004C>T	ENSP00000421384.1:p.Leu1002Phe
ENST00000509793.5:c.3001C>T	ENSP00000424316.1:p.Leu1001Phe
ENST00000509996.1:n.812C>T
ENST00000652245.1:c.2758C>T	ENSP00000498337.1:p.Leu920Phe
XM_005262796.2:c.3127C>T	XP_005262853.1:p.Leu1043Phe
XM_005262797.2:c.3001C>T	XP_005262854.1:p.Leu1001Phe
XM_005262798.2:c.2884C>T	XP_005262855.1:p.Leu962Phe
XM_005262800.2:c.2884C>T	XP_005262857.1:p.Leu962Phe
XM_005262801.2:c.2492-11402C>T	XP_005262858.1:n.2492-11402C>T
XM_006714124.2:c.3127C>T	XP_006714187.1:p.Leu1043Phe
XM_011531707.1:c.3016C>T	XP_011530009.1:p.Leu1006Phe
XM_011531708.1:c.*75C>T	XP_011530010.1:n.*75C>T
XM_017007845.1:c.3151C>T	XP_016863334.1:p.Leu1051Phe
XM_017007846.1:c.3151C>T	XP_016863335.1:p.Leu1051Phe
XM_017007847.1:c.3028C>T	XP_016863336.1:p.Leu1010Phe
XM_017007848.1:c.3025C>T	XP_016863337.1:p.Leu1009Phe
XM_017007849.1:c.2908C>T	XP_016863338.1:p.Leu970Phe
XM_017007850.1:c.3151C>T	XP_016863339.1:p.Leu1051Phe
XM_017007851.1:c.2908C>T	XP_016863340.1:p.Leu970Phe
XM_017007853.1:c.*75C>T	XP_016863342.1:n.*75C>T
XR_001741156.1:n.3212-4705C>T
XR_001741157.1:n.3212-4705C>T
XR_427532.2:n.3188-4705C>T
XR_938699.1:n.3188-4705C>T