Canonical Allele Identifier: CA367584137
Gene: EGFR HGNC NCBI

Linked Data

dbSNP Id: rs2128954689

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.55174768T>G , CM000669.2:g.55174768T>G GRCh38
NC_000007.13:g.55242461T>G , CM000669.1:g.55242461T>G GRCh37
NC_000007.12:g.55209955T>G NCBI36
NG_007726.3:g.160737T>G , LRG_304:g.160737T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000450046.2:c.2072T>G ENSP00000413354.2:p.Ile691Ser
ENST00000700145.1:c.580T>G
ENST00000275493.7:c.2231T>G MANE Select ENSP00000275493.2:p.Ile744Ser
ENST00000275493.6:c.2231T>G ENSP00000275493.2:p.Ile744Ser
ENST00000442591.5:c.*28+1840T>G ENSP00000410031.1:n.*28+1840T>G
ENST00000454757.6:c.2096T>G ENSP00000395243.3:p.Ile699Ser
ENST00000455089.5:c.2096T>G ENSP00000415559.1:p.Ile699Ser
NM_005228.3:c.2231T>G , LRG_304t1:c.2231T>G NP_005219.2:p.Ile744Ser
NM_001346897.1:c.2096T>G NP_001333826.1:p.Ile699Ser
NM_001346898.1:c.2231T>G NP_001333827.1:p.Ile744Ser
NM_001346899.1:c.2096T>G NP_001333828.1:p.Ile699Ser
NM_001346900.1:c.2072T>G NP_001333829.1:p.Ile691Ser
NM_001346941.1:c.1430T>G NP_001333870.1:p.Ile477Ser
NM_005228.4:c.2231T>G NP_005219.2:p.Ile744Ser
NM_005228.5:c.2231T>G MANE Select NP_005219.2:p.Ile744Ser
NM_001346897.2:c.2096T>G NP_001333826.1:p.Ile699Ser
NM_001346898.2:c.2231T>G NP_001333827.1:p.Ile744Ser
NM_001346900.2:c.2072T>G NP_001333829.1:p.Ile691Ser
NM_001346941.2:c.1430T>G NP_001333870.1:p.Ile477Ser
NM_001346899.2:c.2096T>G NP_001333828.1:p.Ile699Ser