Canonical Allele Identifier: CA367583963
Gene: EGFR HGNC NCBI

Linked Data

dbSNP Id: rs397517089

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.55174729G>C , CM000669.2:g.55174729G>C GRCh38
NC_000007.13:g.55242422G>C , CM000669.1:g.55242422G>C GRCh37
NC_000007.12:g.55209916G>C NCBI36
NG_007726.3:g.160698G>C , LRG_304:g.160698G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000450046.2:c.2033G>C ENSP00000413354.2:p.Trp678Ser
ENST00000700145.1:c.541G>C
ENST00000275493.7:c.2192G>C MANE Select ENSP00000275493.2:p.Trp731Ser
ENST00000275493.6:c.2192G>C ENSP00000275493.2:p.Trp731Ser
ENST00000442591.5:c.*28+1801G>C ENSP00000410031.1:n.*28+1801G>C
ENST00000454757.6:c.2057G>C ENSP00000395243.3:p.Trp686Ser
ENST00000455089.5:c.2057G>C ENSP00000415559.1:p.Trp686Ser
NM_005228.3:c.2192G>C , LRG_304t1:c.2192G>C NP_005219.2:p.Trp731Ser
NM_001346897.1:c.2057G>C NP_001333826.1:p.Trp686Ser
NM_001346898.1:c.2192G>C NP_001333827.1:p.Trp731Ser
NM_001346899.1:c.2057G>C NP_001333828.1:p.Trp686Ser
NM_001346900.1:c.2033G>C NP_001333829.1:p.Trp678Ser
NM_001346941.1:c.1391G>C NP_001333870.1:p.Trp464Ser
NM_005228.4:c.2192G>C NP_005219.2:p.Trp731Ser
NM_005228.5:c.2192G>C MANE Select NP_005219.2:p.Trp731Ser
NM_001346897.2:c.2057G>C NP_001333826.1:p.Trp686Ser
NM_001346898.2:c.2192G>C NP_001333827.1:p.Trp731Ser
NM_001346900.2:c.2033G>C NP_001333829.1:p.Trp678Ser
NM_001346941.2:c.1391G>C NP_001333870.1:p.Trp464Ser
NM_001346899.2:c.2057G>C NP_001333828.1:p.Trp686Ser