Canonical Allele Identifier: CA357874680

Gene: EGF

Linked Data

• gnomAD v4: 4-110004563-G-A
• MyVariant Identifiers: chr4:g.110925719G>A (hg19) ; chr4:g.110004563G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.110004563G>A , CM000666.2:g.110004563G>A	GRCh38
NC_000004.11:g.110925719G>A , CM000666.1:g.110925719G>A	GRCh37
NC_000004.10:g.111145168G>A	NCBI36
NG_011441.1:g.96680G>A
NG_011441.2:g.96680G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000265171.10:c.3232G>A MANE Select	ENSP00000265171.5:p.Val1078Met
ENST00000652245.1:c.2863G>A	ENSP00000498337.1:p.Val955Met
ENST00000265171.9:c.3232G>A	ENSP00000265171.5:p.Val1078Met
ENST00000503392.1:c.3109G>A	ENSP00000421384.1:p.Val1037Met
ENST00000509793.5:c.3106G>A	ENSP00000424316.1:p.Val1036Met
ENST00000509996.1:n.917G>A
ENST00000537316.5:n.63G>A
ENST00000540840.1:n.63G>A
ENST00000544918.1:n.317G>A
NM_001178130.1:c.3109G>A	NP_001171601.1:p.Val1037Met
NM_001178131.1:c.3106G>A	NP_001171602.1:p.Val1036Met
NM_001963.4:c.3232G>A	NP_001954.2:p.Val1078Met
XM_005262796.2:c.3232G>A	XP_005262853.1:p.Val1078Met
XM_005262797.2:c.3106G>A	XP_005262854.1:p.Val1036Met
XM_005262798.2:c.2989G>A	XP_005262855.1:p.Val997Met
XM_005262800.2:c.2989G>A	XP_005262857.1:p.Val997Met
XM_005262801.2:c.2492-6639G>A	XP_005262858.1:n.2492-6639G>A
XM_006714124.2:c.3232G>A	XP_006714187.1:p.Val1078Met
XM_011531707.1:c.3121G>A	XP_011530009.1:p.Val1041Met
XR_427532.2:n.3246G>A
XR_938699.1:n.3246G>A
NM_001178130.2:c.3109G>A	NP_001171601.1:p.Val1037Met
NM_001178131.2:c.3106G>A	NP_001171602.1:p.Val1036Met
NM_001357021.1:c.2863G>A	NP_001343950.1:p.Val955Met
NM_001963.5:c.3232G>A	NP_001954.2:p.Val1078Met
XM_017007845.1:c.3256G>A	XP_016863334.1:p.Val1086Met
XM_017007846.1:c.3256G>A	XP_016863335.1:p.Val1086Met
XM_017007847.1:c.3133G>A	XP_016863336.1:p.Val1045Met
XM_017007848.1:c.3130G>A	XP_016863337.1:p.Val1044Met
XM_017007849.1:c.3013G>A	XP_016863338.1:p.Val1005Met
XM_017007850.1:c.3256G>A	XP_016863339.1:p.Val1086Met
XM_017007851.1:c.3013G>A	XP_016863340.1:p.Val1005Met
XR_001741156.1:n.3270G>A
XR_001741157.1:n.3270G>A
NM_001178130.3:c.3109G>A	NP_001171601.1:p.Val1037Met
NM_001178131.3:c.3106G>A	NP_001171602.1:p.Val1036Met
NM_001357021.2:c.2863G>A	NP_001343950.1:p.Val955Met
NM_001963.6:c.3232G>A MANE Select	NP_001954.2:p.Val1078Met