Canonical Allele Identifier: CA367582423

Gene: EGFR

Linked Data

• COSMIC: COSM5415932
• MyVariant Identifiers: chr7:g.55268923T>G (hg19) ; chr7:g.55201230T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.55201230T>G , CM000669.2:g.55201230T>G	GRCh38
NC_000007.13:g.55268923T>G , CM000669.1:g.55268923T>G	GRCh37
NC_000007.12:g.55236417T>G	NCBI36
NG_007726.3:g.187199T>G , LRG_304:g.187199T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450046.2:c.2830T>G	ENSP00000413354.2:p.Phe944Val
ENST00000700145.1:c.900-4117T>G
ENST00000700146.1:n.733T>G
ENST00000700147.1:n.658T>G
ENST00000275493.7:c.2989T>G MANE Select	ENSP00000275493.2:p.Phe997Val
ENST00000275493.6:c.2989T>G	ENSP00000275493.2:p.Phe997Val
ENST00000442591.5:c.*28+28302T>G	ENSP00000410031.1:n.*28+28302T>G
ENST00000454757.6:c.2854T>G	ENSP00000395243.3:p.Phe952Val
ENST00000455089.5:c.2854T>G	ENSP00000415559.1:p.Phe952Val
NM_005228.3:c.2989T>G , LRG_304t1:c.2989T>G	NP_005219.2:p.Phe997Val
NM_001346897.1:c.2854T>G	NP_001333826.1:p.Phe952Val
NM_001346898.1:c.2989T>G	NP_001333827.1:p.Phe997Val
NM_001346899.1:c.2854T>G	NP_001333828.1:p.Phe952Val
NM_001346900.1:c.2830T>G	NP_001333829.1:p.Phe944Val
NM_001346941.1:c.2188T>G	NP_001333870.1:p.Phe730Val
NM_005228.4:c.2989T>G	NP_005219.2:p.Phe997Val
NM_005228.5:c.2989T>G MANE Select	NP_005219.2:p.Phe997Val
NM_001346897.2:c.2854T>G	NP_001333826.1:p.Phe952Val
NM_001346898.2:c.2989T>G	NP_001333827.1:p.Phe997Val
NM_001346900.2:c.2830T>G	NP_001333829.1:p.Phe944Val
NM_001346941.2:c.2188T>G	NP_001333870.1:p.Phe730Val
NM_001346899.2:c.2854T>G	NP_001333828.1:p.Phe952Val