Canonical Allele Identifier: CA135921

Gene: EGFR

Linked Data

• ClinVar Variation Id: 45280
• ClinVar RCV Id: RCV000038436 ; RCV000206918 ; RCV003996409
• dbSNP Id: rs397517128
• COSMIC: COSM6227
• MyVariant Identifiers: chr7:g.55259446A>T (hg19) ; chr7:g.55191753A>T (hg38)
• PubMed: PMID:15623594 ; PMID:15788655 ; PMID:17236554

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.55191753A>T , CM000669.2:g.55191753A>T	GRCh38
NC_000007.13:g.55259446A>T , CM000669.1:g.55259446A>T	GRCh37
NC_000007.12:g.55226940A>T	NCBI36
NG_007726.3:g.177722A>T , LRG_304:g.177722A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450046.2:c.2345A>T	ENSP00000413354.2:p.His782Leu
ENST00000700145.1:c.853A>T
ENST00000275493.7:c.2504A>T MANE Select	ENSP00000275493.2:p.His835Leu
ENST00000275493.6:c.2504A>T	ENSP00000275493.2:p.His835Leu
ENST00000442591.5:c.*28+18825A>T	ENSP00000410031.1:n.*28+18825A>T
ENST00000454757.6:c.2369A>T	ENSP00000395243.3:p.His790Leu
ENST00000455089.5:c.2369A>T	ENSP00000415559.1:p.His790Leu
NM_005228.3:c.2504A>T , LRG_304t1:c.2504A>T	NP_005219.2:p.His835Leu
NM_001346897.1:c.2369A>T	NP_001333826.1:p.His790Leu
NM_001346898.1:c.2504A>T	NP_001333827.1:p.His835Leu
NM_001346899.1:c.2369A>T	NP_001333828.1:p.His790Leu
NM_001346900.1:c.2345A>T	NP_001333829.1:p.His782Leu
NM_001346941.1:c.1703A>T	NP_001333870.1:p.His568Leu
NM_005228.4:c.2504A>T	NP_005219.2:p.His835Leu
NM_005228.5:c.2504A>T MANE Select	NP_005219.2:p.His835Leu
NM_001346897.2:c.2369A>T	NP_001333826.1:p.His790Leu
NM_001346898.2:c.2504A>T	NP_001333827.1:p.His835Leu
NM_001346900.2:c.2345A>T	NP_001333829.1:p.His782Leu
NM_001346941.2:c.1703A>T	NP_001333870.1:p.His568Leu
NM_001346899.2:c.2369A>T	NP_001333828.1:p.His790Leu