Canonical Allele Identifier: CA3044217

Gene: EGF

Linked Data

• dbSNP Id: rs775149703
• ExAC: 4:110925709 G / A
• gnomAD v2: 4-110925709-G-A
• gnomAD v3: 4-110004553-G-A
• gnomAD v4: 4-110004553-G-A
• MyVariant Identifiers: chr4:g.110925709G>A (hg19) ; chr4:g.110004553G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.110004553G>A , CM000666.2:g.110004553G>A	GRCh38
NC_000004.11:g.110925709G>A , CM000666.1:g.110925709G>A	GRCh37
NC_000004.10:g.111145158G>A	NCBI36
NG_011441.1:g.96670G>A
NG_011441.2:g.96670G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000265171.10:c.3222G>A MANE Select	ENSP00000265171.5:p.Ser1074=
ENST00000652245.1:c.2853G>A	ENSP00000498337.1:p.Ser951=
ENST00000265171.9:c.3222G>A	ENSP00000265171.5:p.Ser1074=
ENST00000503392.1:c.3099G>A	ENSP00000421384.1:p.Ser1033=
ENST00000509793.5:c.3096G>A	ENSP00000424316.1:p.Ser1032=
ENST00000509996.1:n.907G>A
ENST00000537316.5:n.53G>A
ENST00000540840.1:n.53G>A
ENST00000544918.1:n.307G>A
NM_001178130.1:c.3099G>A	NP_001171601.1:p.Ser1033=
NM_001178131.1:c.3096G>A	NP_001171602.1:p.Ser1032=
NM_001963.4:c.3222G>A	NP_001954.2:p.Ser1074=
XM_005262796.2:c.3222G>A	XP_005262853.1:p.Ser1074=
XM_005262797.2:c.3096G>A	XP_005262854.1:p.Ser1032=
XM_005262798.2:c.2979G>A	XP_005262855.1:p.Ser993=
XM_005262800.2:c.2979G>A	XP_005262857.1:p.Ser993=
XM_005262801.2:c.2492-6649G>A	XP_005262858.1:n.2492-6649G>A
XM_006714124.2:c.3222G>A	XP_006714187.1:p.Ser1074=
XM_011531707.1:c.3111G>A	XP_011530009.1:p.Ser1037=
XR_427532.2:n.3236G>A
XR_938699.1:n.3236G>A
NM_001178130.2:c.3099G>A	NP_001171601.1:p.Ser1033=
NM_001178131.2:c.3096G>A	NP_001171602.1:p.Ser1032=
NM_001357021.1:c.2853G>A	NP_001343950.1:p.Ser951=
NM_001963.5:c.3222G>A	NP_001954.2:p.Ser1074=
XM_017007845.1:c.3246G>A	XP_016863334.1:p.Ser1082=
XM_017007846.1:c.3246G>A	XP_016863335.1:p.Ser1082=
XM_017007847.1:c.3123G>A	XP_016863336.1:p.Ser1041=
XM_017007848.1:c.3120G>A	XP_016863337.1:p.Ser1040=
XM_017007849.1:c.3003G>A	XP_016863338.1:p.Ser1001=
XM_017007850.1:c.3246G>A	XP_016863339.1:p.Ser1082=
XM_017007851.1:c.3003G>A	XP_016863340.1:p.Ser1001=
XR_001741156.1:n.3260G>A
XR_001741157.1:n.3260G>A
NM_001178130.3:c.3099G>A	NP_001171601.1:p.Ser1033=
NM_001178131.3:c.3096G>A	NP_001171602.1:p.Ser1032=
NM_001357021.2:c.2853G>A	NP_001343950.1:p.Ser951=
NM_001963.6:c.3222G>A MANE Select	NP_001954.2:p.Ser1074=