Canonical Allele Identifier: CA16602539
Gene: EGFR HGNC NCBI

Linked Data

ClinVar Variation Id: 376077
ClinVar RCV Id: RCV000424211
dbSNP Id: rs121913420
COSMIC: COSM18419

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.55174737G>A , CM000669.2:g.55174737G>A GRCh38
NC_000007.13:g.55242430G>A , CM000669.1:g.55242430G>A GRCh37
NC_000007.12:g.55209924G>A NCBI36
NG_007726.3:g.160706G>A , LRG_304:g.160706G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000275493.7:c.2200G>A MANE Select ENSP00000275493.2:p.Glu734Lys
ENST00000275493.6:c.2200G>A ENSP00000275493.2:p.Glu734Lys
ENST00000442591.5:c.*28+1809G>A ENSP00000410031.1:p.=
ENST00000454757.6:c.2065G>A ENSP00000395243.3:p.Glu689Lys
ENST00000455089.5:c.2065G>A ENSP00000415559.1:p.Glu689Lys
NM_005228.3:c.2200G>A , LRG_304t1:c.2200G>A NP_005219.2:p.Glu734Lys
NM_001346897.1:c.2065G>A NP_001333826.1:p.Glu689Lys
NM_001346898.1:c.2200G>A NP_001333827.1:p.Glu734Lys
NM_001346899.1:c.2065G>A NP_001333828.1:p.Glu689Lys
NM_001346900.1:c.2041G>A NP_001333829.1:p.Glu681Lys
NM_001346941.1:c.1399G>A NP_001333870.1:p.Glu467Lys
NM_005228.4:c.2200G>A NP_005219.2:p.Glu734Lys
NM_005228.5:c.2200G>A MANE Select NP_005219.2:p.Glu734Lys
NM_001346897.2:c.2065G>A NP_001333826.1:p.Glu689Lys
NM_001346898.2:c.2200G>A NP_001333827.1:p.Glu734Lys
NM_001346900.2:c.2041G>A NP_001333829.1:p.Glu681Lys
NM_001346941.2:c.1399G>A NP_001333870.1:p.Glu467Lys
NM_001346899.2:c.2065G>A NP_001333828.1:p.Glu689Lys