Canonical Allele Identifier: CA2671756196

Gene: EGF

Linked Data

• gnomAD v4: 4-110004442-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.110004442C>T , CM000666.2:g.110004442C>T	GRCh38
NC_000004.11:g.110925598C>T , CM000666.1:g.110925598C>T	GRCh37
NC_000004.10:g.111145047C>T	NCBI36
NG_011441.1:g.96559C>T
NG_011441.2:g.96559C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000265171.10:c.3174-63C>T MANE Select	ENSP00000265171.5:n.3174-63C>T
ENST00000652245.1:c.2805-63C>T	ENSP00000498337.1:n.2805-63C>T
ENST00000265171.9:c.3174-63C>T	ENSP00000265171.5:n.3174-63C>T
ENST00000503392.1:c.3051-63C>T	ENSP00000421384.1:n.3051-63C>T
ENST00000509793.5:c.3048-63C>T	ENSP00000424316.1:n.3048-63C>T
ENST00000509996.1:n.859-63C>T
ENST00000544918.1:n.196C>T
NM_001178130.1:c.3051-63C>T	NP_001171601.1:n.3051-63C>T
NM_001178131.1:c.3048-63C>T	NP_001171602.1:n.3048-63C>T
NM_001963.4:c.3174-63C>T	NP_001954.2:n.3174-63C>T
XM_005262796.2:c.3174-63C>T	XP_005262853.1:n.3174-63C>T
XM_005262797.2:c.3048-63C>T	XP_005262854.1:n.3048-63C>T
XM_005262798.2:c.2931-63C>T	XP_005262855.1:n.2931-63C>T
XM_005262800.2:c.2931-63C>T	XP_005262857.1:n.2931-63C>T
XM_005262801.2:c.2492-6760C>T	XP_005262858.1:n.2492-6760C>T
XM_006714124.2:c.3174-63C>T	XP_006714187.1:n.3174-63C>T
XM_011531707.1:c.3063-63C>T	XP_011530009.1:n.3063-63C>T
XR_427532.2:n.3188-63C>T
XR_938699.1:n.3188-63C>T
NM_001178130.2:c.3051-63C>T	NP_001171601.1:n.3051-63C>T
NM_001178131.2:c.3048-63C>T	NP_001171602.1:n.3048-63C>T
NM_001357021.1:c.2805-63C>T	NP_001343950.1:n.2805-63C>T
NM_001963.5:c.3174-63C>T	NP_001954.2:n.3174-63C>T
XM_017007845.1:c.3198-63C>T	XP_016863334.1:n.3198-63C>T
XM_017007846.1:c.3198-63C>T	XP_016863335.1:n.3198-63C>T
XM_017007847.1:c.3075-63C>T	XP_016863336.1:n.3075-63C>T
XM_017007848.1:c.3072-63C>T	XP_016863337.1:n.3072-63C>T
XM_017007849.1:c.2955-63C>T	XP_016863338.1:n.2955-63C>T
XM_017007850.1:c.3198-63C>T	XP_016863339.1:n.3198-63C>T
XM_017007851.1:c.2955-63C>T	XP_016863340.1:n.2955-63C>T
XR_001741156.1:n.3212-63C>T
XR_001741157.1:n.3212-63C>T
NM_001178130.3:c.3051-63C>T	NP_001171601.1:n.3051-63C>T
NM_001178131.3:c.3048-63C>T	NP_001171602.1:n.3048-63C>T
NM_001357021.2:c.2805-63C>T	NP_001343950.1:n.2805-63C>T
NM_001963.6:c.3174-63C>T MANE Select	NP_001954.2:n.3174-63C>T