Canonical Allele Identifier: CA135812
Gene: EGFR HGNC NCBI

Linked Data

ClinVar Variation Id: 45239
dbSNP Id: rs121913229
COSMIC: COSM6219

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.55174785G>C , CM000669.2:g.55174785G>C GRCh38
NC_000007.13:g.55242478G>C , CM000669.1:g.55242478G>C GRCh37
NC_000007.12:g.55209972G>C NCBI36
NG_007726.3:g.160754G>C , LRG_304:g.160754G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000275493.7:c.2248G>C MANE Select ENSP00000275493.2:p.Ala750Pro
ENST00000275493.6:c.2248G>C ENSP00000275493.2:p.Ala750Pro
ENST00000442591.5:c.*28+1857G>C ENSP00000410031.1:p.=
ENST00000454757.6:c.2113G>C ENSP00000395243.3:p.Ala705Pro
ENST00000455089.5:c.2113G>C ENSP00000415559.1:p.Ala705Pro
NM_005228.3:c.2248G>C , LRG_304t1:c.2248G>C NP_005219.2:p.Ala750Pro
NM_001346897.1:c.2113G>C NP_001333826.1:p.Ala705Pro
NM_001346898.1:c.2248G>C NP_001333827.1:p.Ala750Pro
NM_001346899.1:c.2113G>C NP_001333828.1:p.Ala705Pro
NM_001346900.1:c.2089G>C NP_001333829.1:p.Ala697Pro
NM_001346941.1:c.1447G>C NP_001333870.1:p.Ala483Pro
NM_005228.4:c.2248G>C NP_005219.2:p.Ala750Pro
NM_005228.5:c.2248G>C MANE Select NP_005219.2:p.Ala750Pro
NM_001346897.2:c.2113G>C NP_001333826.1:p.Ala705Pro
NM_001346898.2:c.2248G>C NP_001333827.1:p.Ala750Pro
NM_001346900.2:c.2089G>C NP_001333829.1:p.Ala697Pro
NM_001346941.2:c.1447G>C NP_001333870.1:p.Ala483Pro
NM_001346899.2:c.2113G>C NP_001333828.1:p.Ala705Pro