Canonical Allele Identifier: CA135921
Gene: EGFR HGNC NCBI

Linked Data

ClinVar Variation Id: 45280
dbSNP Id: rs397517128
COSMIC: COSM6227

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.55191753A>T , CM000669.2:g.55191753A>T GRCh38
NC_000007.13:g.55259446A>T , CM000669.1:g.55259446A>T GRCh37
NC_000007.12:g.55226940A>T NCBI36
NG_007726.3:g.177722A>T , LRG_304:g.177722A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000450046.2:c.2345A>T ENSP00000413354.2:p.His782Leu
ENST00000700145.1:c.853A>T
ENST00000275493.7:c.2504A>T MANE Select ENSP00000275493.2:p.His835Leu
ENST00000275493.6:c.2504A>T ENSP00000275493.2:p.His835Leu
ENST00000442591.5:c.*28+18825A>T ENSP00000410031.1:n.*28+18825A>T
ENST00000454757.6:c.2369A>T ENSP00000395243.3:p.His790Leu
ENST00000455089.5:c.2369A>T ENSP00000415559.1:p.His790Leu
NM_005228.3:c.2504A>T , LRG_304t1:c.2504A>T NP_005219.2:p.His835Leu
NM_001346897.1:c.2369A>T NP_001333826.1:p.His790Leu
NM_001346898.1:c.2504A>T NP_001333827.1:p.His835Leu
NM_001346899.1:c.2369A>T NP_001333828.1:p.His790Leu
NM_001346900.1:c.2345A>T NP_001333829.1:p.His782Leu
NM_001346941.1:c.1703A>T NP_001333870.1:p.His568Leu
NM_005228.4:c.2504A>T NP_005219.2:p.His835Leu
NM_005228.5:c.2504A>T MANE Select NP_005219.2:p.His835Leu
NM_001346897.2:c.2369A>T NP_001333826.1:p.His790Leu
NM_001346898.2:c.2504A>T NP_001333827.1:p.His835Leu
NM_001346900.2:c.2345A>T NP_001333829.1:p.His782Leu
NM_001346941.2:c.1703A>T NP_001333870.1:p.His568Leu
NM_001346899.2:c.2369A>T NP_001333828.1:p.His790Leu