Canonical Allele Identifier: CA357876004
Community Standard Title: NM_001963.6(EGF):c.3586G>A (p.Ala1196Thr)
Gene: EGF HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.110011417G>A , CM000666.2:g.110011417G>A GRCh38
NC_000004.11:g.110932573G>A , CM000666.1:g.110932573G>A GRCh37
NC_000004.10:g.111152022G>A NCBI36
NG_011441.1:g.103534G>A
NG_011441.2:g.103534G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001963.6:c.3586G>A MANE Select NP_001954.2:p.Ala1196Thr
ENST00000265171.10:c.3586G>A MANE Select ENSP00000265171.5:p.Ala1196Thr
NM_001178130.1:c.3463G>A NP_001171601.1:p.Ala1155Thr
NM_001178130.2:c.3463G>A NP_001171601.1:p.Ala1155Thr
NM_001178130.3:c.3463G>A NP_001171601.1:p.Ala1155Thr
NM_001178131.1:c.3460G>A NP_001171602.1:p.Ala1154Thr
NM_001178131.2:c.3460G>A NP_001171602.1:p.Ala1154Thr
NM_001178131.3:c.3460G>A NP_001171602.1:p.Ala1154Thr
NM_001357021.1:c.*105G>A NP_001343950.1:n.*105G>A
NM_001357021.2:c.*105G>A NP_001343950.1:n.*105G>A
NM_001963.4:c.3586G>A NP_001954.2:p.Ala1196Thr
NM_001963.5:c.3586G>A NP_001954.2:p.Ala1196Thr
ENST00000265171.9:c.3586G>A ENSP00000265171.5:p.Ala1196Thr
ENST00000503392.1:c.3463G>A ENSP00000421384.1:p.Ala1155Thr
ENST00000509793.5:c.3460G>A ENSP00000424316.1:p.Ala1154Thr
ENST00000509996.1:n.1192G>A
ENST00000537316.5:n.417G>A
ENST00000540840.1:n.229+109G>A
ENST00000544918.1:n.592G>A
ENST00000652245.1:c.*105G>A ENSP00000498337.1:n.*105G>A
XM_005262796.2:c.3610G>A XP_005262853.1:p.Ala1204Thr
XM_005262797.2:c.3484G>A XP_005262854.1:p.Ala1162Thr
XM_005262798.2:c.3367G>A XP_005262855.1:p.Ala1123Thr
XM_005262800.2:c.*105G>A XP_005262857.1:n.*105G>A
XM_005262801.2:c.2707G>A XP_005262858.1:p.Ala903Thr
XM_006714124.2:c.*105G>A XP_006714187.1:n.*105G>A
XM_011531707.1:c.3499G>A XP_011530009.1:p.Ala1167Thr
XM_017007845.1:c.3634G>A XP_016863334.1:p.Ala1212Thr
XM_017007846.1:c.3610G>A XP_016863335.1:p.Ala1204Thr
XM_017007847.1:c.3511G>A XP_016863336.1:p.Ala1171Thr
XM_017007848.1:c.3508G>A XP_016863337.1:p.Ala1170Thr
XM_017007849.1:c.3391G>A XP_016863338.1:p.Ala1131Thr
XM_017007850.1:c.*105G>A XP_016863339.1:n.*105G>A
XM_017007851.1:c.*105G>A XP_016863340.1:n.*105G>A