Canonical Allele Identifier: CA135775

Gene: EGFR

Linked Data

• ClinVar Variation Id: 45225
• ClinVar RCV Id: RCV000038381 ; RCV000426037 ; RCV000436293
• dbSNP Id: rs121913428
• COSMIC: COSM6239
• MyVariant Identifiers: chr7:g.55241708G>C (hg19) ; chr7:g.55174015G>C (hg38)
• CIViC: CA135775
• PubMed: PMID:2302402 ; PMID:15118073 ; PMID:15118125 ; PMID:15329413 ; PMID:15710947 ; PMID:15738541 ; PMID:16011858 ; PMID:16115929 ; PMID:18458038 ; PMID:19922469 ; PMID:20479403 ; PMID:21531810 ; PMID:22753918 ; PMID:23102728 ; PMID:23242437 ; PMID:25157968 ; PMID:26619011

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.55174015G>C , CM000669.2:g.55174015G>C	GRCh38
NC_000007.13:g.55241708G>C , CM000669.1:g.55241708G>C	GRCh37
NC_000007.12:g.55209202G>C	NCBI36
NG_007726.3:g.159984G>C , LRG_304:g.159984G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450046.2:c.1997G>C	ENSP00000413354.2:p.Gly666Ala
ENST00000700145.1:c.505G>C
ENST00000275493.7:c.2156G>C MANE Select	ENSP00000275493.2:p.Gly719Ala
ENST00000275493.6:c.2156G>C	ENSP00000275493.2:p.Gly719Ala
ENST00000442591.5:c.*28+1087G>C	ENSP00000410031.1:n.*28+1087G>C
ENST00000454757.6:c.2021G>C	ENSP00000395243.3:p.Gly674Ala
ENST00000455089.5:c.2021G>C	ENSP00000415559.1:p.Gly674Ala
NM_005228.3:c.2156G>C , LRG_304t1:c.2156G>C	NP_005219.2:p.Gly719Ala
NM_001346897.1:c.2021G>C	NP_001333826.1:p.Gly674Ala
NM_001346898.1:c.2156G>C	NP_001333827.1:p.Gly719Ala
NM_001346899.1:c.2021G>C	NP_001333828.1:p.Gly674Ala
NM_001346900.1:c.1997G>C	NP_001333829.1:p.Gly666Ala
NM_001346941.1:c.1355G>C	NP_001333870.1:p.Gly452Ala
NM_005228.4:c.2156G>C	NP_005219.2:p.Gly719Ala
NM_005228.5:c.2156G>C MANE Select	NP_005219.2:p.Gly719Ala
NM_001346897.2:c.2021G>C	NP_001333826.1:p.Gly674Ala
NM_001346898.2:c.2156G>C	NP_001333827.1:p.Gly719Ala
NM_001346900.2:c.1997G>C	NP_001333829.1:p.Gly666Ala
NM_001346941.2:c.1355G>C	NP_001333870.1:p.Gly452Ala
NM_001346899.2:c.2021G>C	NP_001333828.1:p.Gly674Ala