Canonical Allele Identifier: CA367580093
Gene: EGFR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.55191732T>C , CM000669.2:g.55191732T>C GRCh38
NC_000007.13:g.55259425T>C , CM000669.1:g.55259425T>C GRCh37
NC_000007.12:g.55226919T>C NCBI36
NG_007726.3:g.177701T>C , LRG_304:g.177701T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000275493.7:c.2483T>C MANE Select ENSP00000275493.2:p.Leu828Ser
ENST00000275493.6:c.2483T>C ENSP00000275493.2:p.Leu828Ser
ENST00000442591.5:c.*28+18804T>C ENSP00000410031.1:n.*28+18804T>C
ENST00000454757.6:c.2348T>C ENSP00000395243.3:p.Leu783Ser
ENST00000455089.5:c.2348T>C ENSP00000415559.1:p.Leu783Ser
NM_005228.3:c.2483T>C , LRG_304t1:c.2483T>C NP_005219.2:p.Leu828Ser
NM_001346897.1:c.2348T>C NP_001333826.1:p.Leu783Ser
NM_001346898.1:c.2483T>C NP_001333827.1:p.Leu828Ser
NM_001346899.1:c.2348T>C NP_001333828.1:p.Leu783Ser
NM_001346900.1:c.2324T>C NP_001333829.1:p.Leu775Ser
NM_001346941.1:c.1682T>C NP_001333870.1:p.Leu561Ser
NM_005228.4:c.2483T>C NP_005219.2:p.Leu828Ser
NM_005228.5:c.2483T>C MANE Select NP_005219.2:p.Leu828Ser
NM_001346897.2:c.2348T>C NP_001333826.1:p.Leu783Ser
NM_001346898.2:c.2483T>C NP_001333827.1:p.Leu828Ser
NM_001346900.2:c.2324T>C NP_001333829.1:p.Leu775Ser
NM_001346941.2:c.1682T>C NP_001333870.1:p.Leu561Ser
NM_001346899.2:c.2348T>C NP_001333828.1:p.Leu783Ser