Canonical Allele Identifier: CA3043560

Gene: EGF

Linked Data

• ClinVar Variation Id: 347231
• ClinVar RCV Id: RCV000278406 ; RCV000889194
• dbSNP Id: rs76435576
• ExAC: 4:110880603 G / C
• gnomAD v2: 4-110880603-G-C
• gnomAD v3: 4-109959447-G-C
• gnomAD v4: 4-109959447-G-C
• MyVariant Identifiers: chr4:g.110880603G>C (hg19) ; chr4:g.109959447G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.109959447G>C , CM000666.2:g.109959447G>C	GRCh38
NC_000004.11:g.110880603G>C , CM000666.1:g.110880603G>C	GRCh37
NC_000004.10:g.111100052G>C	NCBI36
NG_011441.1:g.51564G>C
NG_011441.2:g.51564G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265171.10:c.1066+10G>C MANE Select	ENSP00000265171.5:n.1066+10G>C
ENST00000652245.1:c.941-1420G>C	ENSP00000498337.1:n.941-1420G>C
ENST00000265171.9:c.1066+10G>C	ENSP00000265171.5:n.1066+10G>C
ENST00000503392.1:c.1066+10G>C	ENSP00000421384.1:n.1066+10G>C
ENST00000504633.1:n.304+10G>C
ENST00000509793.5:c.941-1420G>C	ENSP00000424316.1:n.941-1420G>C
NM_001178130.1:c.1066+10G>C	NP_001171601.1:n.1066+10G>C
NM_001178131.1:c.941-1420G>C	NP_001171602.1:n.941-1420G>C
NM_001963.4:c.1066+10G>C	NP_001954.2:n.1066+10G>C
XM_005262796.2:c.1066+10G>C	XP_005262853.1:n.1066+10G>C
XM_005262797.2:c.941-1420G>C	XP_005262854.1:n.941-1420G>C
XM_005262798.2:c.1066+10G>C	XP_005262855.1:n.1066+10G>C
XM_005262800.2:c.1066+10G>C	XP_005262857.1:n.1066+10G>C
XM_005262801.2:c.1066+10G>C	XP_005262858.1:n.1066+10G>C
XM_005262802.2:c.1066+10G>C	XP_005262859.1:n.1066+10G>C
XM_006714124.2:c.1066+10G>C	XP_006714187.1:n.1066+10G>C
XM_011531707.1:c.955+10G>C	XP_011530009.1:n.955+10G>C
XM_011531708.1:c.1066+10G>C	XP_011530010.1:n.1066+10G>C
XM_011531709.1:c.1066+10G>C	XP_011530011.1:n.1066+10G>C
XR_427532.2:n.1519+10G>C
XR_938699.1:n.1519+10G>C
NM_001178130.2:c.1066+10G>C	NP_001171601.1:n.1066+10G>C
NM_001178131.2:c.941-1420G>C	NP_001171602.1:n.941-1420G>C
NM_001357021.1:c.941-1420G>C	NP_001343950.1:n.941-1420G>C
NM_001963.5:c.1066+10G>C	NP_001954.2:n.1066+10G>C
XM_017007845.1:c.1090+10G>C	XP_016863334.1:n.1090+10G>C
XM_017007846.1:c.1090+10G>C	XP_016863335.1:n.1090+10G>C
XM_017007847.1:c.1090+10G>C	XP_016863336.1:n.1090+10G>C
XM_017007848.1:c.965-1420G>C	XP_016863337.1:n.965-1420G>C
XM_017007849.1:c.1090+10G>C	XP_016863338.1:n.1090+10G>C
XM_017007850.1:c.1090+10G>C	XP_016863339.1:n.1090+10G>C
XM_017007851.1:c.1090+10G>C	XP_016863340.1:n.1090+10G>C
XM_017007853.1:c.1090+10G>C	XP_016863342.1:n.1090+10G>C
XM_017007854.1:c.1090+10G>C	XP_016863343.1:n.1090+10G>C
XM_017007855.1:c.1090+10G>C	XP_016863344.1:n.1090+10G>C
XR_001741156.1:n.1543+10G>C
XR_001741157.1:n.1543+10G>C
NM_001178130.3:c.1066+10G>C	NP_001171601.1:n.1066+10G>C
NM_001178131.3:c.941-1420G>C	NP_001171602.1:n.941-1420G>C
NM_001357021.2:c.941-1420G>C	NP_001343950.1:n.941-1420G>C
NM_001963.6:c.1066+10G>C MANE Select	NP_001954.2:n.1066+10G>C