Canonical Allele Identifier: CA158918328
Gene: EGFR HGNC NCBI
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.55161562G>T , CM000669.2:g.55161562G>T GRCh38
NC_000007.13:g.55229255G>T , CM000669.1:g.55229255G>T GRCh37
NC_000007.12:g.55196749G>T NCBI36
NG_007726.3:g.147531G>T , LRG_304:g.147531G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000450046.2:c.1403G>T ENSP00000413354.2:p.Arg468Met
ENST00000344576.7:c.1562G>T ENSP00000345973.2:p.Arg521Met
ENST00000275493.7:c.1562G>T MANE Select ENSP00000275493.2:p.Arg521Met
ENST00000275493.6:c.1562G>T ENSP00000275493.2:p.Arg521Met
ENST00000342916.7:c.1562G>T ENSP00000342376.3:p.Arg521Met
ENST00000344576.6:c.1562G>T ENSP00000345973.2:p.Arg521Met
ENST00000442591.5:c.1562G>T ENSP00000410031.1:p.Arg521Met
ENST00000454757.6:c.1427G>T ENSP00000395243.3:p.Arg476Met
ENST00000455089.5:c.1427G>T ENSP00000415559.1:p.Arg476Met
NM_005228.3:c.1562G>T , LRG_304t1:c.1562G>T NP_005219.2:p.Arg521Met
NM_201282.1:c.1562G>T NP_958439.1:p.Arg521Met
NM_201284.1:c.1562G>T NP_958441.1:p.Arg521Met
NM_001346897.1:c.1427G>T NP_001333826.1:p.Arg476Met
NM_001346898.1:c.1562G>T NP_001333827.1:p.Arg521Met
NM_001346899.1:c.1427G>T NP_001333828.1:p.Arg476Met
NM_001346900.1:c.1403G>T NP_001333829.1:p.Arg468Met
NM_001346941.1:c.761G>T NP_001333870.1:p.Arg254Met
NM_005228.4:c.1562G>T NP_005219.2:p.Arg521Met
NM_005228.5:c.1562G>T MANE Select NP_005219.2:p.Arg521Met
NM_001346897.2:c.1427G>T NP_001333826.1:p.Arg476Met
NM_001346898.2:c.1562G>T NP_001333827.1:p.Arg521Met
NM_001346900.2:c.1403G>T NP_001333829.1:p.Arg468Met
NM_001346941.2:c.761G>T NP_001333870.1:p.Arg254Met
NM_201282.2:c.1562G>T NP_958439.1:p.Arg521Met
NM_201284.2:c.1562G>T NP_958441.1:p.Arg521Met
NM_001346899.2:c.1427G>T NP_001333828.1:p.Arg476Met