Canonical Allele Identifier: CA367584121
Gene: EGFR HGNC NCBI

Linked Data

dbSNP Id: rs2128954683

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.55174765C>A , CM000669.2:g.55174765C>A GRCh38
NC_000007.13:g.55242458C>A , CM000669.1:g.55242458C>A GRCh37
NC_000007.12:g.55209952C>A NCBI36
NG_007726.3:g.160734C>A , LRG_304:g.160734C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000450046.2:c.2069C>A ENSP00000413354.2:p.Ala690Asp
ENST00000700145.1:c.577C>A
ENST00000275493.7:c.2228C>A MANE Select ENSP00000275493.2:p.Ala743Asp
ENST00000275493.6:c.2228C>A ENSP00000275493.2:p.Ala743Asp
ENST00000442591.5:c.*28+1837C>A ENSP00000410031.1:n.*28+1837C>A
ENST00000454757.6:c.2093C>A ENSP00000395243.3:p.Ala698Asp
ENST00000455089.5:c.2093C>A ENSP00000415559.1:p.Ala698Asp
NM_005228.3:c.2228C>A , LRG_304t1:c.2228C>A NP_005219.2:p.Ala743Asp
NM_001346897.1:c.2093C>A NP_001333826.1:p.Ala698Asp
NM_001346898.1:c.2228C>A NP_001333827.1:p.Ala743Asp
NM_001346899.1:c.2093C>A NP_001333828.1:p.Ala698Asp
NM_001346900.1:c.2069C>A NP_001333829.1:p.Ala690Asp
NM_001346941.1:c.1427C>A NP_001333870.1:p.Ala476Asp
NM_005228.4:c.2228C>A NP_005219.2:p.Ala743Asp
NM_005228.5:c.2228C>A MANE Select NP_005219.2:p.Ala743Asp
NM_001346897.2:c.2093C>A NP_001333826.1:p.Ala698Asp
NM_001346898.2:c.2228C>A NP_001333827.1:p.Ala743Asp
NM_001346900.2:c.2069C>A NP_001333829.1:p.Ala690Asp
NM_001346941.2:c.1427C>A NP_001333870.1:p.Ala476Asp
NM_001346899.2:c.2093C>A NP_001333828.1:p.Ala698Asp