Canonical Allele Identifier: CA126727
Gene: EGF HGNC NCBI

Linked Data

ClinVar Variation Id: 16614
ClinVar RCV Id: RCV000018089
dbSNP Id: rs121434567

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.110004540C>T , CM000666.2:g.110004540C>T GRCh38
NC_000004.11:g.110925696C>T , CM000666.1:g.110925696C>T GRCh37
NC_000004.10:g.111145145C>T NCBI36
NG_011441.1:g.96657C>T
NG_011441.2:g.96657C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000265171.10:c.3209C>T MANE Select ENSP00000265171.5:p.Pro1070Leu
ENST00000652245.1:c.2840C>T ENSP00000498337.1:p.Pro947Leu
ENST00000265171.9:c.3209C>T ENSP00000265171.5:p.Pro1070Leu
ENST00000503392.1:c.3086C>T ENSP00000421384.1:p.Pro1029Leu
ENST00000509793.5:c.3083C>T ENSP00000424316.1:p.Pro1028Leu
ENST00000509996.1:n.894C>T
ENST00000537316.5:n.40C>T
ENST00000540840.1:n.40C>T
ENST00000544918.1:n.294C>T
NM_001178130.1:c.3086C>T NP_001171601.1:p.Pro1029Leu
NM_001178131.1:c.3083C>T NP_001171602.1:p.Pro1028Leu
NM_001963.4:c.3209C>T NP_001954.2:p.Pro1070Leu
XM_005262796.2:c.3209C>T XP_005262853.1:p.Pro1070Leu
XM_005262797.2:c.3083C>T XP_005262854.1:p.Pro1028Leu
XM_005262798.2:c.2966C>T XP_005262855.1:p.Pro989Leu
XM_005262800.2:c.2966C>T XP_005262857.1:p.Pro989Leu
XM_005262801.2:c.2492-6662C>T XP_005262858.1:n.2492-6662C>T
XM_006714124.2:c.3209C>T XP_006714187.1:p.Pro1070Leu
XM_011531707.1:c.3098C>T XP_011530009.1:p.Pro1033Leu
XR_427532.2:n.3223C>T
XR_938699.1:n.3223C>T
NM_001178130.2:c.3086C>T NP_001171601.1:p.Pro1029Leu
NM_001178131.2:c.3083C>T NP_001171602.1:p.Pro1028Leu
NM_001357021.1:c.2840C>T NP_001343950.1:p.Pro947Leu
NM_001963.5:c.3209C>T NP_001954.2:p.Pro1070Leu
XM_017007845.1:c.3233C>T XP_016863334.1:p.Pro1078Leu
XM_017007846.1:c.3233C>T XP_016863335.1:p.Pro1078Leu
XM_017007847.1:c.3110C>T XP_016863336.1:p.Pro1037Leu
XM_017007848.1:c.3107C>T XP_016863337.1:p.Pro1036Leu
XM_017007849.1:c.2990C>T XP_016863338.1:p.Pro997Leu
XM_017007850.1:c.3233C>T XP_016863339.1:p.Pro1078Leu
XM_017007851.1:c.2990C>T XP_016863340.1:p.Pro997Leu
XR_001741156.1:n.3247C>T
XR_001741157.1:n.3247C>T
NM_001178130.3:c.3086C>T NP_001171601.1:p.Pro1029Leu
NM_001178131.3:c.3083C>T NP_001171602.1:p.Pro1028Leu
NM_001357021.2:c.2840C>T NP_001343950.1:p.Pro947Leu
NM_001963.6:c.3209C>T MANE Select NP_001954.2:p.Pro1070Leu