Canonical Allele Identifier: CA126713

Gene: EGFR

Linked Data

• ClinVar Variation Id: 16609
• ClinVar RCV Id: RCV000018083 ; RCV000018084 ; RCV000150629 ; RCV000211323 ; RCV000418019 ; RCV000435684 ; RCV000987885 ; RCV001030016 ; RCV001030017 ; RCV002464068
• dbSNP Id: rs121434568
• COSMIC: COSM6224
• MyVariant Identifiers: chr7:g.55259515T>G (hg19) ; chr7:g.55191822T>G (hg38)
• PubMed: PMID:15118073 ; PMID:15118125 ; PMID:15329413 ; PMID:15897572 ; PMID:15901872 ; PMID:16043828 ; PMID:16115929 ; PMID:16203769 ; PMID:16204011 ; PMID:16204070 ; PMID:16865253 ; PMID:16956694 ; PMID:17047654 ; PMID:17106442 ; PMID:17192902 ; PMID:17285735 ; PMID:17317677 ; PMID:17387341 ; PMID:17429313 ; PMID:17473659 ; PMID:18303429 ; PMID:18349398 ; PMID:19096302 ; PMID:19455431 ; PMID:19692680 ; PMID:19692684 ; PMID:19922469 ; PMID:20022809 ; PMID:20038723 ; PMID:20479403 ; PMID:20573926 ; PMID:21670455 ; PMID:21783417 ; PMID:21900837 ; PMID:21969500 ; PMID:22215752 ; PMID:22370314 ; PMID:22452895 ; PMID:22740981 ; PMID:22753918 ; PMID:22760226 ; PMID:22982650 ; PMID:22992668 ; PMID:23102728 ; PMID:23816960 ; PMID:23948351 ; PMID:25157968 ; PMID:26490356 ; PMID:26619011
• CIViC: CA126713

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.55191822T>G , CM000669.2:g.55191822T>G	GRCh38
NC_000007.13:g.55259515T>G , CM000669.1:g.55259515T>G	GRCh37
NC_000007.12:g.55227009T>G	NCBI36
NG_007726.3:g.177791T>G , LRG_304:g.177791T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000450046.2:c.2414T>G	ENSP00000413354.2:p.Leu805Arg
ENST00000700145.1:c.899+23T>G
ENST00000275493.7:c.2573T>G MANE Select	ENSP00000275493.2:p.Leu858Arg
ENST00000275493.6:c.2573T>G	ENSP00000275493.2:p.Leu858Arg
ENST00000442591.5:c.*28+18894T>G	ENSP00000410031.1:n.*28+18894T>G
ENST00000454757.6:c.2438T>G	ENSP00000395243.3:p.Leu813Arg
ENST00000455089.5:c.2438T>G	ENSP00000415559.1:p.Leu813Arg
NM_005228.3:c.2573T>G , LRG_304t1:c.2573T>G	NP_005219.2:p.Leu858Arg
NM_001346897.1:c.2438T>G	NP_001333826.1:p.Leu813Arg
NM_001346898.1:c.2573T>G	NP_001333827.1:p.Leu858Arg
NM_001346899.1:c.2438T>G	NP_001333828.1:p.Leu813Arg
NM_001346900.1:c.2414T>G	NP_001333829.1:p.Leu805Arg
NM_001346941.1:c.1772T>G	NP_001333870.1:p.Leu591Arg
NM_005228.4:c.2573T>G	NP_005219.2:p.Leu858Arg
NM_005228.5:c.2573T>G MANE Select	NP_005219.2:p.Leu858Arg
NM_001346897.2:c.2438T>G	NP_001333826.1:p.Leu813Arg
NM_001346898.2:c.2573T>G	NP_001333827.1:p.Leu858Arg
NM_001346900.2:c.2414T>G	NP_001333829.1:p.Leu805Arg
NM_001346941.2:c.1772T>G	NP_001333870.1:p.Leu591Arg
NM_001346899.2:c.2438T>G	NP_001333828.1:p.Leu813Arg