Canonical Allele Identifier: CA367580350
Gene: EGFR HGNC NCBI

Linked Data

dbSNP Id: rs1787411940

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.55191858A>T , CM000669.2:g.55191858A>T GRCh38
NC_000007.13:g.55259551A>T , CM000669.1:g.55259551A>T GRCh37
NC_000007.12:g.55227045A>T NCBI36
NG_007726.3:g.177827A>T , LRG_304:g.177827A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000450046.2:c.2450A>T ENSP00000413354.2:p.His817Leu
ENST00000700145.1:c.899+59A>T
ENST00000275493.7:c.2609A>T MANE Select ENSP00000275493.2:p.His870Leu
ENST00000275493.6:c.2609A>T ENSP00000275493.2:p.His870Leu
ENST00000442591.5:c.*28+18930A>T ENSP00000410031.1:n.*28+18930A>T
ENST00000454757.6:c.2474A>T ENSP00000395243.3:p.His825Leu
ENST00000455089.5:c.2474A>T ENSP00000415559.1:p.His825Leu
NM_005228.3:c.2609A>T , LRG_304t1:c.2609A>T NP_005219.2:p.His870Leu
NM_001346897.1:c.2474A>T NP_001333826.1:p.His825Leu
NM_001346898.1:c.2609A>T NP_001333827.1:p.His870Leu
NM_001346899.1:c.2474A>T NP_001333828.1:p.His825Leu
NM_001346900.1:c.2450A>T NP_001333829.1:p.His817Leu
NM_001346941.1:c.1808A>T NP_001333870.1:p.His603Leu
NM_005228.4:c.2609A>T NP_005219.2:p.His870Leu
NM_005228.5:c.2609A>T MANE Select NP_005219.2:p.His870Leu
NM_001346897.2:c.2474A>T NP_001333826.1:p.His825Leu
NM_001346898.2:c.2609A>T NP_001333827.1:p.His870Leu
NM_001346900.2:c.2450A>T NP_001333829.1:p.His817Leu
NM_001346941.2:c.1808A>T NP_001333870.1:p.His603Leu
NM_001346899.2:c.2474A>T NP_001333828.1:p.His825Leu