Canonical Allele Identifier: CA3043626
Gene: EGF HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 347234
ClinVar RCV Id: RCV000284265
dbSNP Id: rs11568943

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.109961965G>A , CM000666.2:g.109961965G>A GRCh38
NC_000004.11:g.110883121G>A , CM000666.1:g.110883121G>A GRCh37
NC_000004.10:g.111102570G>A NCBI36
NG_011441.1:g.54082G>A

Transcript Alleles

HGVS Amino-acid change
NM_001178130.1:c.1292G>A VV NP_001171601.1:p.Arg431Lys
NM_001178131.1:c.1166G>A VV NP_001171602.1:p.Arg389Lys
NM_001963.4:c.1292G>A VV NP_001954.2:p.Arg431Lys
XM_005262796.2:c.1292G>A XP_005262853.1:p.Arg431Lys
XM_005262797.2:c.1166G>A XP_005262854.1:p.Arg389Lys
XM_005262798.2:c.1292G>A XP_005262855.1:p.Arg431Lys
XM_005262800.2:c.1292G>A XP_005262857.1:p.Arg431Lys
XM_005262801.2:c.1292G>A XP_005262858.1:p.Arg431Lys
XM_005262802.2:c.1292G>A XP_005262859.1:p.Arg431Lys
XM_006714124.2:c.1292G>A XP_006714187.1:p.Arg431Lys
XM_011531707.1:c.1181G>A XP_011530009.1:p.Arg394Lys
XM_011531708.1:c.1292G>A XP_011530010.1:p.Arg431Lys
XM_011531709.1:c.1292G>A XP_011530011.1:p.Arg431Lys
XR_427532.2:n.1745G>A
XR_938699.1:n.1745G>A
NM_001178130.2:c.1292G>A VV
NM_001178131.2:c.1166G>A VV
NM_001357021.1:c.1166G>A VV NP_001343950.1:p.Arg389Lys
NM_001963.5:c.1292G>A VV
XM_017007845.1:c.1316G>A XP_016863334.1:p.Arg439Lys
XM_017007846.1:c.1316G>A XP_016863335.1:p.Arg439Lys
XM_017007847.1:c.1316G>A XP_016863336.1:p.Arg439Lys
XM_017007848.1:c.1190G>A XP_016863337.1:p.Arg397Lys
XM_017007849.1:c.1316G>A XP_016863338.1:p.Arg439Lys
XM_017007850.1:c.1316G>A XP_016863339.1:p.Arg439Lys
XM_017007851.1:c.1316G>A XP_016863340.1:p.Arg439Lys
XM_017007853.1:c.1316G>A XP_016863342.1:p.Arg439Lys
XM_017007854.1:c.1316G>A XP_016863343.1:p.Arg439Lys
XM_017007855.1:c.1316G>A XP_016863344.1:p.Arg439Lys
XR_001741156.1:n.1769G>A
XR_001741157.1:n.1769G>A
ENST00000265171.9:c.1292G>A ENSP00000265171.5:p.Arg431Lys
ENST00000503392.1:c.1292G>A ENSP00000421384.1:p.Arg431Lys
ENST00000504633.1:n.530G>A
ENST00000509793.5:c.1166G>A ENSP00000424316.1:p.Arg389Lys