Canonical Allele Identifier: CA367584097

Gene: EGFR

Linked Data

• ClinVar Variation Id: 1361667
• ClinVar RCV Id: RCV001899792
• dbSNP Id: rs2128954665
• COSMIC: COSM17570
• MyVariant Identifiers: chr7:g.55242452C>T (hg19) ; chr7:g.55174759C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.55174759C>T , CM000669.2:g.55174759C>T	GRCh38
NC_000007.13:g.55242452C>T , CM000669.1:g.55242452C>T	GRCh37
NC_000007.12:g.55209946C>T	NCBI36
NG_007726.3:g.160728C>T , LRG_304:g.160728C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000450046.2:c.2063C>T	ENSP00000413354.2:p.Pro688Leu
ENST00000700145.1:c.571C>T
ENST00000275493.7:c.2222C>T MANE Select	ENSP00000275493.2:p.Pro741Leu
ENST00000275493.6:c.2222C>T	ENSP00000275493.2:p.Pro741Leu
ENST00000442591.5:c.*28+1831C>T	ENSP00000410031.1:n.*28+1831C>T
ENST00000454757.6:c.2087C>T	ENSP00000395243.3:p.Pro696Leu
ENST00000455089.5:c.2087C>T	ENSP00000415559.1:p.Pro696Leu
NM_005228.3:c.2222C>T , LRG_304t1:c.2222C>T	NP_005219.2:p.Pro741Leu
NM_001346897.1:c.2087C>T	NP_001333826.1:p.Pro696Leu
NM_001346898.1:c.2222C>T	NP_001333827.1:p.Pro741Leu
NM_001346899.1:c.2087C>T	NP_001333828.1:p.Pro696Leu
NM_001346900.1:c.2063C>T	NP_001333829.1:p.Pro688Leu
NM_001346941.1:c.1421C>T	NP_001333870.1:p.Pro474Leu
NM_005228.4:c.2222C>T	NP_005219.2:p.Pro741Leu
NM_005228.5:c.2222C>T MANE Select	NP_005219.2:p.Pro741Leu
NM_001346897.2:c.2087C>T	NP_001333826.1:p.Pro696Leu
NM_001346898.2:c.2222C>T	NP_001333827.1:p.Pro741Leu
NM_001346900.2:c.2063C>T	NP_001333829.1:p.Pro688Leu
NM_001346941.2:c.1421C>T	NP_001333870.1:p.Pro474Leu
NM_001346899.2:c.2087C>T	NP_001333828.1:p.Pro696Leu