Canonical Allele Identifier: CA454979423
Gene: EGFR HGNC NCBI

Linked Data

COSMIC: COSM53229
MyVariant Identifiers: chr7:g.55242462C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.55174769C>A , CM000669.2:g.55174769C>A GRCh38
NC_000007.13:g.55242462C>A , CM000669.1:g.55242462C>A GRCh37
NC_000007.12:g.55209956C>A NCBI36
NG_007726.3:g.160738C>A , LRG_304:g.160738C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000275493.7:c.2232C>A MANE Select ENSP00000275493.2:p.Ile744=
ENST00000275493.6:c.2232C>A ENSP00000275493.2:p.Ile744=
ENST00000442591.5:c.*28+1841C>A ENSP00000410031.1:n.*28+1841C>A
ENST00000454757.6:c.2097C>A ENSP00000395243.3:p.Ile699=
ENST00000455089.5:c.2097C>A ENSP00000415559.1:p.Ile699=
NM_005228.3:c.2232C>A , LRG_304t1:c.2232C>A NP_005219.2:p.Ile744=
NM_001346897.1:c.2097C>A NP_001333826.1:p.Ile699=
NM_001346898.1:c.2232C>A NP_001333827.1:p.Ile744=
NM_001346899.1:c.2097C>A NP_001333828.1:p.Ile699=
NM_001346900.1:c.2073C>A NP_001333829.1:p.Ile691=
NM_001346941.1:c.1431C>A NP_001333870.1:p.Ile477=
NM_005228.4:c.2232C>A NP_005219.2:p.Ile744=
NM_005228.5:c.2232C>A MANE Select NP_005219.2:p.Ile744=
NM_001346897.2:c.2097C>A NP_001333826.1:p.Ile699=
NM_001346898.2:c.2232C>A NP_001333827.1:p.Ile744=
NM_001346900.2:c.2073C>A NP_001333829.1:p.Ile691=
NM_001346941.2:c.1431C>A NP_001333870.1:p.Ile477=
NM_001346899.2:c.2097C>A NP_001333828.1:p.Ile699=