Canonical Allele Identifier: CA176021

Gene: EGFR

Linked Data

• ClinVar Variation Id: 163380
• ClinVar RCV Id: RCV000150630 ; RCV000428294 ; RCV000438538 ; RCV000420876
• dbSNP Id: rs121913444
• COSMIC: COSM6213
• MyVariant Identifiers: chr7:g.55259524T>A (hg19) ; chr7:g.55191831T>A (hg38)
• CIViC: CA176021
• PubMed: PMID:15118073 ; PMID:15118125 ; PMID:15329413 ; PMID:15897572 ; PMID:19922469 ; PMID:22753918 ; PMID:23102728 ; PMID:26619011

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450046.2:c.2423T>A	ENSP00000413354.2:p.Leu808Gln
ENST00000700145.1:c.899+32T>A
ENST00000275493.7:c.2582T>A MANE Select	ENSP00000275493.2:p.Leu861Gln
ENST00000275493.6:c.2582T>A	ENSP00000275493.2:p.Leu861Gln
ENST00000442591.5:c.*28+18903T>A	ENSP00000410031.1:n.*28+18903T>A
ENST00000454757.6:c.2447T>A	ENSP00000395243.3:p.Leu816Gln
ENST00000455089.5:c.2447T>A	ENSP00000415559.1:p.Leu816Gln
NM_005228.3:c.2582T>A , LRG_304t1:c.2582T>A	NP_005219.2:p.Leu861Gln
NM_001346897.1:c.2447T>A	NP_001333826.1:p.Leu816Gln
NM_001346898.1:c.2582T>A	NP_001333827.1:p.Leu861Gln
NM_001346899.1:c.2447T>A	NP_001333828.1:p.Leu816Gln
NM_001346900.1:c.2423T>A	NP_001333829.1:p.Leu808Gln
NM_001346941.1:c.1781T>A	NP_001333870.1:p.Leu594Gln
NM_005228.4:c.2582T>A	NP_005219.2:p.Leu861Gln
NM_005228.5:c.2582T>A MANE Select	NP_005219.2:p.Leu861Gln
NM_001346897.2:c.2447T>A	NP_001333826.1:p.Leu816Gln
NM_001346898.2:c.2582T>A	NP_001333827.1:p.Leu861Gln
NM_001346900.2:c.2423T>A	NP_001333829.1:p.Leu808Gln
NM_001346941.2:c.1781T>A	NP_001333870.1:p.Leu594Gln
NM_001346899.2:c.2447T>A	NP_001333828.1:p.Leu816Gln