Canonical Allele Identifier: CA440594063

Gene: EGF

Linked Data

• gnomAD v4: 4-109980929-A-T
• MyVariant Identifiers: chr4:g.110902085A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.109980929A>T , CM000666.2:g.109980929A>T	GRCh38
NC_000004.11:g.110902085A>T , CM000666.1:g.110902085A>T	GRCh37
NC_000004.10:g.111121534A>T	NCBI36
NG_011441.1:g.73046A>T
NG_011441.2:g.73046A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265171.10:c.2325A>T MANE Select	ENSP00000265171.5:p.Ser775=
ENST00000652245.1:c.2199A>T	ENSP00000498337.1:p.Ser733=
ENST00000265171.9:c.2325A>T	ENSP00000265171.5:p.Ser775=
ENST00000503392.1:c.2325A>T	ENSP00000421384.1:p.Ser775=
ENST00000509793.5:c.2199A>T	ENSP00000424316.1:p.Ser733=
ENST00000509996.1:n.253A>T
ENST00000511228.5:n.289A>T
NM_001178130.1:c.2325A>T	NP_001171601.1:p.Ser775=
NM_001178131.1:c.2199A>T	NP_001171602.1:p.Ser733=
NM_001963.4:c.2325A>T	NP_001954.2:p.Ser775=
XM_005262796.2:c.2325A>T	XP_005262853.1:p.Ser775=
XM_005262797.2:c.2199A>T	XP_005262854.1:p.Ser733=
XM_005262798.2:c.2325A>T	XP_005262855.1:p.Ser775=
XM_005262800.2:c.2325A>T	XP_005262857.1:p.Ser775=
XM_005262801.2:c.2325A>T	XP_005262858.1:p.Ser775=
XM_006714124.2:c.2325A>T	XP_006714187.1:p.Ser775=
XM_011531707.1:c.2214A>T	XP_011530009.1:p.Ser738=
XM_011531708.1:c.2325A>T	XP_011530010.1:p.Ser775=
XR_427532.2:n.2778A>T
XR_938699.1:n.2778A>T
NM_001178130.2:c.2325A>T	NP_001171601.1:p.Ser775=
NM_001178131.2:c.2199A>T	NP_001171602.1:p.Ser733=
NM_001357021.1:c.2199A>T	NP_001343950.1:p.Ser733=
NM_001963.5:c.2325A>T	NP_001954.2:p.Ser775=
XM_017007845.1:c.2349A>T	XP_016863334.1:p.Ser783=
XM_017007846.1:c.2349A>T	XP_016863335.1:p.Ser783=
XM_017007847.1:c.2349A>T	XP_016863336.1:p.Ser783=
XM_017007848.1:c.2223A>T	XP_016863337.1:p.Ser741=
XM_017007849.1:c.2349A>T	XP_016863338.1:p.Ser783=
XM_017007850.1:c.2349A>T	XP_016863339.1:p.Ser783=
XM_017007851.1:c.2349A>T	XP_016863340.1:p.Ser783=
XM_017007853.1:c.2349A>T	XP_016863342.1:p.Ser783=
XR_001741156.1:n.2802A>T
XR_001741157.1:n.2802A>T
NM_001178130.3:c.2325A>T	NP_001171601.1:p.Ser775=
NM_001178131.3:c.2199A>T	NP_001171602.1:p.Ser733=
NM_001357021.2:c.2199A>T	NP_001343950.1:p.Ser733=
NM_001963.6:c.2325A>T MANE Select	NP_001954.2:p.Ser775=