Canonical Allele Identifier: CA367583847
Gene: EGFR HGNC NCBI

Linked Data

ClinVar Variation Id: 2736092
ClinVar RCV Id: RCV003535197
dbSNP Id: rs2128953782

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.55174041A>G , CM000669.2:g.55174041A>G GRCh38
NC_000007.13:g.55241734A>G , CM000669.1:g.55241734A>G GRCh37
NC_000007.12:g.55209228A>G NCBI36
NG_007726.3:g.160010A>G , LRG_304:g.160010A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000450046.2:c.2023A>G ENSP00000413354.2:p.Lys675Glu
ENST00000700145.1:c.531A>G
ENST00000275493.7:c.2182A>G MANE Select ENSP00000275493.2:p.Lys728Glu
ENST00000275493.6:c.2182A>G ENSP00000275493.2:p.Lys728Glu
ENST00000442591.5:c.*28+1113A>G ENSP00000410031.1:n.*28+1113A>G
ENST00000454757.6:c.2047A>G ENSP00000395243.3:p.Lys683Glu
ENST00000455089.5:c.2047A>G ENSP00000415559.1:p.Lys683Glu
NM_005228.3:c.2182A>G , LRG_304t1:c.2182A>G NP_005219.2:p.Lys728Glu
NM_001346897.1:c.2047A>G NP_001333826.1:p.Lys683Glu
NM_001346898.1:c.2182A>G NP_001333827.1:p.Lys728Glu
NM_001346899.1:c.2047A>G NP_001333828.1:p.Lys683Glu
NM_001346900.1:c.2023A>G NP_001333829.1:p.Lys675Glu
NM_001346941.1:c.1381A>G NP_001333870.1:p.Lys461Glu
NM_005228.4:c.2182A>G NP_005219.2:p.Lys728Glu
NM_005228.5:c.2182A>G MANE Select NP_005219.2:p.Lys728Glu
NM_001346897.2:c.2047A>G NP_001333826.1:p.Lys683Glu
NM_001346898.2:c.2182A>G NP_001333827.1:p.Lys728Glu
NM_001346900.2:c.2023A>G NP_001333829.1:p.Lys675Glu
NM_001346941.2:c.1381A>G NP_001333870.1:p.Lys461Glu
NM_001346899.2:c.2047A>G NP_001333828.1:p.Lys683Glu