Canonical Allele Identifier: CA367584142
Gene: EGFR HGNC NCBI

Linked Data

gnomAD v4: 7-55174770-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.55174770A>G , CM000669.2:g.55174770A>G GRCh38
NC_000007.13:g.55242463A>G , CM000669.1:g.55242463A>G GRCh37
NC_000007.12:g.55209957A>G NCBI36
NG_007726.3:g.160739A>G , LRG_304:g.160739A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000450046.2:c.2074A>G ENSP00000413354.2:p.Lys692Glu
ENST00000700145.1:c.582A>G
ENST00000275493.7:c.2233A>G MANE Select ENSP00000275493.2:p.Lys745Glu
ENST00000275493.6:c.2233A>G ENSP00000275493.2:p.Lys745Glu
ENST00000442591.5:c.*28+1842A>G ENSP00000410031.1:n.*28+1842A>G
ENST00000454757.6:c.2098A>G ENSP00000395243.3:p.Lys700Glu
ENST00000455089.5:c.2098A>G ENSP00000415559.1:p.Lys700Glu
NM_005228.3:c.2233A>G , LRG_304t1:c.2233A>G NP_005219.2:p.Lys745Glu
NM_001346897.1:c.2098A>G NP_001333826.1:p.Lys700Glu
NM_001346898.1:c.2233A>G NP_001333827.1:p.Lys745Glu
NM_001346899.1:c.2098A>G NP_001333828.1:p.Lys700Glu
NM_001346900.1:c.2074A>G NP_001333829.1:p.Lys692Glu
NM_001346941.1:c.1432A>G NP_001333870.1:p.Lys478Glu
NM_005228.4:c.2233A>G NP_005219.2:p.Lys745Glu
NM_005228.5:c.2233A>G MANE Select NP_005219.2:p.Lys745Glu
NM_001346897.2:c.2098A>G NP_001333826.1:p.Lys700Glu
NM_001346898.2:c.2233A>G NP_001333827.1:p.Lys745Glu
NM_001346900.2:c.2074A>G NP_001333829.1:p.Lys692Glu
NM_001346941.2:c.1432A>G NP_001333870.1:p.Lys478Glu
NM_001346899.2:c.2098A>G NP_001333828.1:p.Lys700Glu