Canonical Allele Identifier: CA440593968

Gene: EGF

Linked Data

• gnomAD v4: 4-109980872-C-T
• MyVariant Identifiers: chr4:g.110902028C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.109980872C>T , CM000666.2:g.109980872C>T	GRCh38
NC_000004.11:g.110902028C>T , CM000666.1:g.110902028C>T	GRCh37
NC_000004.10:g.111121477C>T	NCBI36
NG_011441.1:g.72989C>T
NG_011441.2:g.72989C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265171.10:c.2268C>T MANE Select	ENSP00000265171.5:p.Cys756=
ENST00000652245.1:c.2142C>T	ENSP00000498337.1:p.Cys714=
ENST00000265171.9:c.2268C>T	ENSP00000265171.5:p.Cys756=
ENST00000503392.1:c.2268C>T	ENSP00000421384.1:p.Cys756=
ENST00000509793.5:c.2142C>T	ENSP00000424316.1:p.Cys714=
ENST00000509996.1:n.196C>T
ENST00000511228.5:n.232C>T
NM_001178130.1:c.2268C>T	NP_001171601.1:p.Cys756=
NM_001178131.1:c.2142C>T	NP_001171602.1:p.Cys714=
NM_001963.4:c.2268C>T	NP_001954.2:p.Cys756=
XM_005262796.2:c.2268C>T	XP_005262853.1:p.Cys756=
XM_005262797.2:c.2142C>T	XP_005262854.1:p.Cys714=
XM_005262798.2:c.2268C>T	XP_005262855.1:p.Cys756=
XM_005262800.2:c.2268C>T	XP_005262857.1:p.Cys756=
XM_005262801.2:c.2268C>T	XP_005262858.1:p.Cys756=
XM_006714124.2:c.2268C>T	XP_006714187.1:p.Cys756=
XM_011531707.1:c.2157C>T	XP_011530009.1:p.Cys719=
XM_011531708.1:c.2268C>T	XP_011530010.1:p.Cys756=
XR_427532.2:n.2721C>T
XR_938699.1:n.2721C>T
NM_001178130.2:c.2268C>T	NP_001171601.1:p.Cys756=
NM_001178131.2:c.2142C>T	NP_001171602.1:p.Cys714=
NM_001357021.1:c.2142C>T	NP_001343950.1:p.Cys714=
NM_001963.5:c.2268C>T	NP_001954.2:p.Cys756=
XM_017007845.1:c.2292C>T	XP_016863334.1:p.Cys764=
XM_017007846.1:c.2292C>T	XP_016863335.1:p.Cys764=
XM_017007847.1:c.2292C>T	XP_016863336.1:p.Cys764=
XM_017007848.1:c.2166C>T	XP_016863337.1:p.Cys722=
XM_017007849.1:c.2292C>T	XP_016863338.1:p.Cys764=
XM_017007850.1:c.2292C>T	XP_016863339.1:p.Cys764=
XM_017007851.1:c.2292C>T	XP_016863340.1:p.Cys764=
XM_017007853.1:c.2292C>T	XP_016863342.1:p.Cys764=
XR_001741156.1:n.2745C>T
XR_001741157.1:n.2745C>T
NM_001178130.3:c.2268C>T	NP_001171601.1:p.Cys756=
NM_001178131.3:c.2142C>T	NP_001171602.1:p.Cys714=
NM_001357021.2:c.2142C>T	NP_001343950.1:p.Cys714=
NM_001963.6:c.2268C>T MANE Select	NP_001954.2:p.Cys756=