Canonical Allele Identifier: CA090928
Gene: EGFR HGNC NCBI
EGFR-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 16613
dbSNP Id: rs121434569
COSMIC: COSM6240
CIViC: CA090928

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.55181378C>T , CM000669.2:g.55181378C>T GRCh38
NC_000007.13:g.55249071C>T , CM000669.1:g.55249071C>T GRCh37
NC_000007.12:g.55216565C>T NCBI36
NG_007726.3:g.167347C>T , LRG_304:g.167347C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000275493.7:c.2369C>T MANE Select ENSP00000275493.2:p.Thr790Met
ENST00000275493.6:c.2369C>T ENSP00000275493.2:p.Thr790Met
ENST00000442591.5:c.*28+8450C>T ENSP00000410031.1:p.=
ENST00000454757.6:c.2234C>T ENSP00000395243.3:p.Thr745Met
ENST00000455089.5:c.2234C>T ENSP00000415559.1:p.Thr745Met
NM_005228.3:c.2369C>T , LRG_304t1:c.2369C>T (EGFR) NP_005219.2:p.Thr790Met
NR_047551.1:n.1193G>A (EGFR-AS1)
NM_001346897.1:c.2234C>T (EGFR) NP_001333826.1:p.Thr745Met
NM_001346898.1:c.2369C>T (EGFR) NP_001333827.1:p.Thr790Met
NM_001346899.1:c.2234C>T (EGFR) NP_001333828.1:p.Thr745Met
NM_001346900.1:c.2210C>T (EGFR) NP_001333829.1:p.Thr737Met
NM_001346941.1:c.1568C>T (EGFR) NP_001333870.1:p.Thr523Met
NM_005228.4:c.2369C>T (EGFR) NP_005219.2:p.Thr790Met
NM_005228.5:c.2369C>T (EGFR) MANE Select NP_005219.2:p.Thr790Met
NM_001346897.2:c.2234C>T (EGFR) NP_001333826.1:p.Thr745Met
NM_001346898.2:c.2369C>T (EGFR) NP_001333827.1:p.Thr790Met
NM_001346900.2:c.2210C>T (EGFR) NP_001333829.1:p.Thr737Met
NM_001346941.2:c.1568C>T (EGFR) NP_001333870.1:p.Thr523Met
NM_001346899.2:c.2234C>T (EGFR) NP_001333828.1:p.Thr745Met