Canonical Allele Identifier: CA3043919

Gene: EGF

Linked Data

• dbSNP Id: rs778357456
• ExAC: 4:110902007 C / T
• gnomAD v2: 4-110902007-C-T
• gnomAD v3: 4-109980851-C-T
• gnomAD v4: 4-109980851-C-T
• COSMIC: COSM4584732
• MyVariant Identifiers: chr4:g.110902007C>T (hg19) ; chr4:g.109980851C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.109980851C>T , CM000666.2:g.109980851C>T	GRCh38
NC_000004.11:g.110902007C>T , CM000666.1:g.110902007C>T	GRCh37
NC_000004.10:g.111121456C>T	NCBI36
NG_011441.1:g.72968C>T
NG_011441.2:g.72968C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265171.10:c.2247C>T MANE Select	ENSP00000265171.5:p.Asn749=
ENST00000652245.1:c.2121C>T	ENSP00000498337.1:p.Asn707=
ENST00000265171.9:c.2247C>T	ENSP00000265171.5:p.Asn749=
ENST00000503392.1:c.2247C>T	ENSP00000421384.1:p.Asn749=
ENST00000509793.5:c.2121C>T	ENSP00000424316.1:p.Asn707=
ENST00000509996.1:n.175C>T
ENST00000511228.5:n.211C>T
NM_001178130.1:c.2247C>T	NP_001171601.1:p.Asn749=
NM_001178131.1:c.2121C>T	NP_001171602.1:p.Asn707=
NM_001963.4:c.2247C>T	NP_001954.2:p.Asn749=
XM_005262796.2:c.2247C>T	XP_005262853.1:p.Asn749=
XM_005262797.2:c.2121C>T	XP_005262854.1:p.Asn707=
XM_005262798.2:c.2247C>T	XP_005262855.1:p.Asn749=
XM_005262800.2:c.2247C>T	XP_005262857.1:p.Asn749=
XM_005262801.2:c.2247C>T	XP_005262858.1:p.Asn749=
XM_006714124.2:c.2247C>T	XP_006714187.1:p.Asn749=
XM_011531707.1:c.2136C>T	XP_011530009.1:p.Asn712=
XM_011531708.1:c.2247C>T	XP_011530010.1:p.Asn749=
XR_427532.2:n.2700C>T
XR_938699.1:n.2700C>T
NM_001178130.2:c.2247C>T	NP_001171601.1:p.Asn749=
NM_001178131.2:c.2121C>T	NP_001171602.1:p.Asn707=
NM_001357021.1:c.2121C>T	NP_001343950.1:p.Asn707=
NM_001963.5:c.2247C>T	NP_001954.2:p.Asn749=
XM_017007845.1:c.2271C>T	XP_016863334.1:p.Asn757=
XM_017007846.1:c.2271C>T	XP_016863335.1:p.Asn757=
XM_017007847.1:c.2271C>T	XP_016863336.1:p.Asn757=
XM_017007848.1:c.2145C>T	XP_016863337.1:p.Asn715=
XM_017007849.1:c.2271C>T	XP_016863338.1:p.Asn757=
XM_017007850.1:c.2271C>T	XP_016863339.1:p.Asn757=
XM_017007851.1:c.2271C>T	XP_016863340.1:p.Asn757=
XM_017007853.1:c.2271C>T	XP_016863342.1:p.Asn757=
XR_001741156.1:n.2724C>T
XR_001741157.1:n.2724C>T
NM_001178130.3:c.2247C>T	NP_001171601.1:p.Asn749=
NM_001178131.3:c.2121C>T	NP_001171602.1:p.Asn707=
NM_001357021.2:c.2121C>T	NP_001343950.1:p.Asn707=
NM_001963.6:c.2247C>T MANE Select	NP_001954.2:p.Asn749=