Canonical Allele Identifier: CA2671756634

Gene: EGF

Linked Data

• gnomAD v4: 4-110011669-A-T

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.110011669A>T , CM000666.2:g.110011669A>T	GRCh38
NC_000004.11:g.110932825A>T , CM000666.1:g.110932825A>T	GRCh37
NC_000004.10:g.111152274A>T	NCBI36
NG_011441.1:g.103786A>T
NG_011441.2:g.103786A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000265171.10:c.*214A>T MANE Select	ENSP00000265171.5:n.*214A>T
ENST00000652245.1:c.*357A>T	ENSP00000498337.1:n.*357A>T
ENST00000265171.9:c.*214A>T	ENSP00000265171.5:n.*214A>T
ENST00000509793.5:c.*214A>T	ENSP00000424316.1:n.*214A>T
ENST00000509996.1:n.1444A>T
ENST00000540840.1:n.229+361A>T
NM_001178130.1:c.*214A>T	NP_001171601.1:n.*214A>T
NM_001178131.1:c.*214A>T	NP_001171602.1:n.*214A>T
NM_001963.4:c.*214A>T	NP_001954.2:n.*214A>T
XM_005262796.2:c.*214A>T	XP_005262853.1:n.*214A>T
XM_005262797.2:c.*214A>T	XP_005262854.1:n.*214A>T
XM_005262798.2:c.*214A>T	XP_005262855.1:n.*214A>T
XM_005262800.2:c.*357A>T	XP_005262857.1:n.*357A>T
XM_005262801.2:c.*214A>T	XP_005262858.1:n.*214A>T
XM_006714124.2:c.*357A>T	XP_006714187.1:n.*357A>T
XM_011531707.1:c.*214A>T	XP_011530009.1:n.*214A>T
NM_001178130.2:c.*214A>T	NP_001171601.1:n.*214A>T
NM_001178131.2:c.*214A>T	NP_001171602.1:n.*214A>T
NM_001357021.1:c.*357A>T	NP_001343950.1:n.*357A>T
NM_001963.5:c.*214A>T	NP_001954.2:n.*214A>T
XM_017007845.1:c.*214A>T	XP_016863334.1:n.*214A>T
XM_017007846.1:c.*214A>T	XP_016863335.1:n.*214A>T
XM_017007847.1:c.*214A>T	XP_016863336.1:n.*214A>T
XM_017007848.1:c.*214A>T	XP_016863337.1:n.*214A>T
XM_017007849.1:c.*214A>T	XP_016863338.1:n.*214A>T
XM_017007850.1:c.*357A>T	XP_016863339.1:n.*357A>T
XM_017007851.1:c.*357A>T	XP_016863340.1:n.*357A>T
NM_001178130.3:c.*214A>T	NP_001171601.1:n.*214A>T
NM_001178131.3:c.*214A>T	NP_001171602.1:n.*214A>T
NM_001357021.2:c.*357A>T	NP_001343950.1:n.*357A>T
NM_001963.6:c.*214A>T MANE Select	NP_001954.2:n.*214A>T