Canonical Allele Identifier: CA10616923
Gene: EGF HGNC NCBI

Linked Data

ClinVar Variation Id: 347287
ClinVar RCV Id: RCV000365277
dbSNP Id: rs749675346

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.110012811T>C , CM000666.2:g.110012811T>C GRCh38
NC_000004.11:g.110933967T>C , CM000666.1:g.110933967T>C GRCh37
NC_000004.10:g.111153416T>C NCBI36
NG_011441.1:g.104928T>C
NG_011441.2:g.104928T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000265171.10:c.*1356T>C MANE Select ENSP00000265171.5:n.*1356T>C
ENST00000652245.1:c.*1499T>C ENSP00000498337.1:n.*1499T>C
NM_001178130.1:c.*1356T>C NP_001171601.1:n.*1356T>C
NM_001178131.1:c.*1356T>C NP_001171602.1:n.*1356T>C
NM_001963.4:c.*1356T>C NP_001954.2:n.*1356T>C
XM_005262796.2:c.*1356T>C XP_005262853.1:n.*1356T>C
XM_005262797.2:c.*1356T>C XP_005262854.1:n.*1356T>C
XM_005262798.2:c.*1356T>C XP_005262855.1:n.*1356T>C
XM_005262800.2:c.*1499T>C XP_005262857.1:n.*1499T>C
XM_005262801.2:c.*1356T>C XP_005262858.1:n.*1356T>C
XM_006714124.2:c.*1499T>C XP_006714187.1:n.*1499T>C
XM_011531707.1:c.*1356T>C XP_011530009.1:n.*1356T>C
NM_001178130.2:c.*1356T>C NP_001171601.1:n.*1356T>C
NM_001178131.2:c.*1356T>C NP_001171602.1:n.*1356T>C
NM_001357021.1:c.*1499T>C NP_001343950.1:n.*1499T>C
NM_001963.5:c.*1356T>C NP_001954.2:n.*1356T>C
XM_017007845.1:c.*1356T>C XP_016863334.1:n.*1356T>C
XM_017007846.1:c.*1356T>C XP_016863335.1:n.*1356T>C
XM_017007847.1:c.*1356T>C XP_016863336.1:n.*1356T>C
XM_017007848.1:c.*1356T>C XP_016863337.1:n.*1356T>C
XM_017007849.1:c.*1356T>C XP_016863338.1:n.*1356T>C
XM_017007850.1:c.*1499T>C XP_016863339.1:n.*1499T>C
XM_017007851.1:c.*1499T>C XP_016863340.1:n.*1499T>C
NM_001178130.3:c.*1356T>C NP_001171601.1:n.*1356T>C
NM_001178131.3:c.*1356T>C NP_001171602.1:n.*1356T>C
NM_001357021.2:c.*1499T>C NP_001343950.1:n.*1499T>C
NM_001963.6:c.*1356T>C MANE Select NP_001954.2:n.*1356T>C