Canonical Allele Identifier: CA2578168820

Gene: EGF

Linked Data

• gnomAD v4: 4-110004453-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.110004453C>A , CM000666.2:g.110004453C>A	GRCh38
NC_000004.11:g.110925609C>A , CM000666.1:g.110925609C>A	GRCh37
NC_000004.10:g.111145058C>A	NCBI36
NG_011441.1:g.96570C>A
NG_011441.2:g.96570C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000265171.10:c.3174-52C>A MANE Select	ENSP00000265171.5:n.3174-52C>A
ENST00000652245.1:c.2805-52C>A	ENSP00000498337.1:n.2805-52C>A
ENST00000265171.9:c.3174-52C>A	ENSP00000265171.5:n.3174-52C>A
ENST00000503392.1:c.3051-52C>A	ENSP00000421384.1:n.3051-52C>A
ENST00000509793.5:c.3048-52C>A	ENSP00000424316.1:n.3048-52C>A
ENST00000509996.1:n.859-52C>A
ENST00000544918.1:n.207C>A
NM_001178130.1:c.3051-52C>A	NP_001171601.1:n.3051-52C>A
NM_001178131.1:c.3048-52C>A	NP_001171602.1:n.3048-52C>A
NM_001963.4:c.3174-52C>A	NP_001954.2:n.3174-52C>A
XM_005262796.2:c.3174-52C>A	XP_005262853.1:n.3174-52C>A
XM_005262797.2:c.3048-52C>A	XP_005262854.1:n.3048-52C>A
XM_005262798.2:c.2931-52C>A	XP_005262855.1:n.2931-52C>A
XM_005262800.2:c.2931-52C>A	XP_005262857.1:n.2931-52C>A
XM_005262801.2:c.2492-6749C>A	XP_005262858.1:n.2492-6749C>A
XM_006714124.2:c.3174-52C>A	XP_006714187.1:n.3174-52C>A
XM_011531707.1:c.3063-52C>A	XP_011530009.1:n.3063-52C>A
XR_427532.2:n.3188-52C>A
XR_938699.1:n.3188-52C>A
NM_001178130.2:c.3051-52C>A	NP_001171601.1:n.3051-52C>A
NM_001178131.2:c.3048-52C>A	NP_001171602.1:n.3048-52C>A
NM_001357021.1:c.2805-52C>A	NP_001343950.1:n.2805-52C>A
NM_001963.5:c.3174-52C>A	NP_001954.2:n.3174-52C>A
XM_017007845.1:c.3198-52C>A	XP_016863334.1:n.3198-52C>A
XM_017007846.1:c.3198-52C>A	XP_016863335.1:n.3198-52C>A
XM_017007847.1:c.3075-52C>A	XP_016863336.1:n.3075-52C>A
XM_017007848.1:c.3072-52C>A	XP_016863337.1:n.3072-52C>A
XM_017007849.1:c.2955-52C>A	XP_016863338.1:n.2955-52C>A
XM_017007850.1:c.3198-52C>A	XP_016863339.1:n.3198-52C>A
XM_017007851.1:c.2955-52C>A	XP_016863340.1:n.2955-52C>A
XR_001741156.1:n.3212-52C>A
XR_001741157.1:n.3212-52C>A
NM_001178130.3:c.3051-52C>A	NP_001171601.1:n.3051-52C>A
NM_001178131.3:c.3048-52C>A	NP_001171602.1:n.3048-52C>A
NM_001357021.2:c.2805-52C>A	NP_001343950.1:n.2805-52C>A
NM_001963.6:c.3174-52C>A MANE Select	NP_001954.2:n.3174-52C>A