Canonical Allele Identifier: CA367580109
Gene: EGFR HGNC NCBI

Linked Data

dbSNP Id: rs2128964393

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.55191738A>C , CM000669.2:g.55191738A>C GRCh38
NC_000007.13:g.55259431A>C , CM000669.1:g.55259431A>C GRCh37
NC_000007.12:g.55226925A>C NCBI36
NG_007726.3:g.177707A>C , LRG_304:g.177707A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000450046.2:c.2330A>C ENSP00000413354.2:p.Asp777Ala
ENST00000700145.1:c.838A>C
ENST00000275493.7:c.2489A>C MANE Select ENSP00000275493.2:p.Asp830Ala
ENST00000275493.6:c.2489A>C ENSP00000275493.2:p.Asp830Ala
ENST00000442591.5:c.*28+18810A>C ENSP00000410031.1:n.*28+18810A>C
ENST00000454757.6:c.2354A>C ENSP00000395243.3:p.Asp785Ala
ENST00000455089.5:c.2354A>C ENSP00000415559.1:p.Asp785Ala
NM_005228.3:c.2489A>C , LRG_304t1:c.2489A>C NP_005219.2:p.Asp830Ala
NM_001346897.1:c.2354A>C NP_001333826.1:p.Asp785Ala
NM_001346898.1:c.2489A>C NP_001333827.1:p.Asp830Ala
NM_001346899.1:c.2354A>C NP_001333828.1:p.Asp785Ala
NM_001346900.1:c.2330A>C NP_001333829.1:p.Asp777Ala
NM_001346941.1:c.1688A>C NP_001333870.1:p.Asp563Ala
NM_005228.4:c.2489A>C NP_005219.2:p.Asp830Ala
NM_005228.5:c.2489A>C MANE Select NP_005219.2:p.Asp830Ala
NM_001346897.2:c.2354A>C NP_001333826.1:p.Asp785Ala
NM_001346898.2:c.2489A>C NP_001333827.1:p.Asp830Ala
NM_001346900.2:c.2330A>C NP_001333829.1:p.Asp777Ala
NM_001346941.2:c.1688A>C NP_001333870.1:p.Asp563Ala
NM_001346899.2:c.2354A>C NP_001333828.1:p.Asp785Ala