Canonical Allele Identifier: CA4266020
Gene: EGFR HGNC NCBI

Linked Data

ClinVar Variation Id: 376081
dbSNP Id: rs121913231
COSMIC: COSM6268

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.55174794C>T , CM000669.2:g.55174794C>T GRCh38
NC_000007.13:g.55242487C>T , CM000669.1:g.55242487C>T GRCh37
NC_000007.12:g.55209981C>T NCBI36
NG_007726.3:g.160763C>T , LRG_304:g.160763C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000275493.7:c.2257C>T MANE Select ENSP00000275493.2:p.Pro753Ser
ENST00000275493.6:c.2257C>T ENSP00000275493.2:p.Pro753Ser
ENST00000442591.5:c.*28+1866C>T ENSP00000410031.1:p.=
ENST00000454757.6:c.2122C>T ENSP00000395243.3:p.Pro708Ser
ENST00000455089.5:c.2122C>T ENSP00000415559.1:p.Pro708Ser
NM_005228.3:c.2257C>T , LRG_304t1:c.2257C>T NP_005219.2:p.Pro753Ser
NM_001346897.1:c.2122C>T NP_001333826.1:p.Pro708Ser
NM_001346898.1:c.2257C>T NP_001333827.1:p.Pro753Ser
NM_001346899.1:c.2122C>T NP_001333828.1:p.Pro708Ser
NM_001346900.1:c.2098C>T NP_001333829.1:p.Pro700Ser
NM_001346941.1:c.1456C>T NP_001333870.1:p.Pro486Ser
NM_005228.4:c.2257C>T NP_005219.2:p.Pro753Ser
NM_005228.5:c.2257C>T MANE Select NP_005219.2:p.Pro753Ser
NM_001346897.2:c.2122C>T NP_001333826.1:p.Pro708Ser
NM_001346898.2:c.2257C>T NP_001333827.1:p.Pro753Ser
NM_001346900.2:c.2098C>T NP_001333829.1:p.Pro700Ser
NM_001346941.2:c.1456C>T NP_001333870.1:p.Pro486Ser
NM_001346899.2:c.2122C>T NP_001333828.1:p.Pro708Ser