Canonical Allele Identifier: CA135940

Gene: EGFR

Linked Data

• ClinVar Variation Id: 45287
• ClinVar RCV Id: RCV000038443 ; RCV000434431
• dbSNP Id: rs121913444
• COSMIC: COSM12374
• MyVariant Identifiers: chr7:g.55259524T>G (hg19) ; chr7:g.55191831T>G (hg38)
• PubMed: PMID:16931592 ; PMID:18509184 ; PMID:22753918 ; PMID:23102728
• CIViC: CA135940

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.55191831T>G , CM000669.2:g.55191831T>G	GRCh38
NC_000007.13:g.55259524T>G , CM000669.1:g.55259524T>G	GRCh37
NC_000007.12:g.55227018T>G	NCBI36
NG_007726.3:g.177800T>G , LRG_304:g.177800T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000450046.2:c.2423T>G	ENSP00000413354.2:p.Leu808Arg
ENST00000700145.1:c.899+32T>G
ENST00000275493.7:c.2582T>G MANE Select	ENSP00000275493.2:p.Leu861Arg
ENST00000275493.6:c.2582T>G	ENSP00000275493.2:p.Leu861Arg
ENST00000442591.5:c.*28+18903T>G	ENSP00000410031.1:n.*28+18903T>G
ENST00000454757.6:c.2447T>G	ENSP00000395243.3:p.Leu816Arg
ENST00000455089.5:c.2447T>G	ENSP00000415559.1:p.Leu816Arg
NM_005228.3:c.2582T>G , LRG_304t1:c.2582T>G	NP_005219.2:p.Leu861Arg
NM_001346897.1:c.2447T>G	NP_001333826.1:p.Leu816Arg
NM_001346898.1:c.2582T>G	NP_001333827.1:p.Leu861Arg
NM_001346899.1:c.2447T>G	NP_001333828.1:p.Leu816Arg
NM_001346900.1:c.2423T>G	NP_001333829.1:p.Leu808Arg
NM_001346941.1:c.1781T>G	NP_001333870.1:p.Leu594Arg
NM_005228.4:c.2582T>G	NP_005219.2:p.Leu861Arg
NM_005228.5:c.2582T>G MANE Select	NP_005219.2:p.Leu861Arg
NM_001346897.2:c.2447T>G	NP_001333826.1:p.Leu816Arg
NM_001346898.2:c.2582T>G	NP_001333827.1:p.Leu861Arg
NM_001346900.2:c.2423T>G	NP_001333829.1:p.Leu808Arg
NM_001346941.2:c.1781T>G	NP_001333870.1:p.Leu594Arg
NM_001346899.2:c.2447T>G	NP_001333828.1:p.Leu816Arg