Canonical Allele Identifier: CA126719

Gene: EGFR

Linked Data

• ClinVar Variation Id: 16611
• ClinVar RCV Id: RCV000018086 ; RCV000038380 ; RCV000426731 ; RCV000433465
• dbSNP Id: rs28929495
• COSMIC: COSM6253
• MyVariant Identifiers: chr7:g.55241707G>T (hg19) ; chr7:g.55174014G>T (hg38)
• CIViC: CA126719
• PubMed: PMID:15118073 ; PMID:15118125 ; PMID:15329413 ; PMID:15710947 ; PMID:16011858 ; PMID:16115929 ; PMID:18199554 ; PMID:19536777 ; PMID:19671738 ; PMID:19922469 ; PMID:20479403 ; PMID:21841502 ; PMID:22753918 ; PMID:23102728 ; PMID:25157968 ; PMID:26619011

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.55174014G>T , CM000669.2:g.55174014G>T	GRCh38
NC_000007.13:g.55241707G>T , CM000669.1:g.55241707G>T	GRCh37
NC_000007.12:g.55209201G>T	NCBI36
NG_007726.3:g.159983G>T , LRG_304:g.159983G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450046.2:c.1996G>T	ENSP00000413354.2:p.Gly666Cys
ENST00000700145.1:c.504G>T
ENST00000275493.7:c.2155G>T MANE Select	ENSP00000275493.2:p.Gly719Cys
ENST00000275493.6:c.2155G>T	ENSP00000275493.2:p.Gly719Cys
ENST00000442591.5:c.*28+1086G>T	ENSP00000410031.1:n.*28+1086G>T
ENST00000454757.6:c.2020G>T	ENSP00000395243.3:p.Gly674Cys
ENST00000455089.5:c.2020G>T	ENSP00000415559.1:p.Gly674Cys
NM_005228.3:c.2155G>T , LRG_304t1:c.2155G>T	NP_005219.2:p.Gly719Cys
NM_001346897.1:c.2020G>T	NP_001333826.1:p.Gly674Cys
NM_001346898.1:c.2155G>T	NP_001333827.1:p.Gly719Cys
NM_001346899.1:c.2020G>T	NP_001333828.1:p.Gly674Cys
NM_001346900.1:c.1996G>T	NP_001333829.1:p.Gly666Cys
NM_001346941.1:c.1354G>T	NP_001333870.1:p.Gly452Cys
NM_005228.4:c.2155G>T	NP_005219.2:p.Gly719Cys
NM_005228.5:c.2155G>T MANE Select	NP_005219.2:p.Gly719Cys
NM_001346897.2:c.2020G>T	NP_001333826.1:p.Gly674Cys
NM_001346898.2:c.2155G>T	NP_001333827.1:p.Gly719Cys
NM_001346900.2:c.1996G>T	NP_001333829.1:p.Gly666Cys
NM_001346941.2:c.1354G>T	NP_001333870.1:p.Gly452Cys
NM_001346899.2:c.2020G>T	NP_001333828.1:p.Gly674Cys