Canonical Allele Identifier: CA367582474
Gene: EGFR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.55201252A>C , CM000669.2:g.55201252A>C GRCh38
NC_000007.13:g.55268945A>C , CM000669.1:g.55268945A>C GRCh37
NC_000007.12:g.55236439A>C NCBI36
NG_007726.3:g.187221A>C , LRG_304:g.187221A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000450046.2:c.2852A>C ENSP00000413354.2:p.Glu951Ala
ENST00000700145.1:c.900-4095A>C
ENST00000700146.1:n.755A>C
ENST00000700147.1:n.680A>C
ENST00000275493.7:c.3011A>C MANE Select ENSP00000275493.2:p.Glu1004Ala
ENST00000275493.6:c.3011A>C ENSP00000275493.2:p.Glu1004Ala
ENST00000442591.5:c.*28+28324A>C ENSP00000410031.1:n.*28+28324A>C
ENST00000454757.6:c.2876A>C ENSP00000395243.3:p.Glu959Ala
ENST00000455089.5:c.2876A>C ENSP00000415559.1:p.Glu959Ala
NM_005228.3:c.3011A>C , LRG_304t1:c.3011A>C NP_005219.2:p.Glu1004Ala
NM_001346897.1:c.2876A>C NP_001333826.1:p.Glu959Ala
NM_001346898.1:c.3011A>C NP_001333827.1:p.Glu1004Ala
NM_001346899.1:c.2876A>C NP_001333828.1:p.Glu959Ala
NM_001346900.1:c.2852A>C NP_001333829.1:p.Glu951Ala
NM_001346941.1:c.2210A>C NP_001333870.1:p.Glu737Ala
NM_005228.4:c.3011A>C NP_005219.2:p.Glu1004Ala
NM_005228.5:c.3011A>C MANE Select NP_005219.2:p.Glu1004Ala
NM_001346897.2:c.2876A>C NP_001333826.1:p.Glu959Ala
NM_001346898.2:c.3011A>C NP_001333827.1:p.Glu1004Ala
NM_001346900.2:c.2852A>C NP_001333829.1:p.Glu951Ala
NM_001346941.2:c.2210A>C NP_001333870.1:p.Glu737Ala
NM_001346899.2:c.2876A>C NP_001333828.1:p.Glu959Ala