Canonical Allele Identifier: CA4266105

Gene: EGFR

Linked Data

• ClinVar Variation Id: 936373
• ClinVar RCV Id: RCV001205157
• dbSNP Id: rs745812480
• ExAC: 7:55259436 C / T
• gnomAD v2: 7-55259436-C-T
• gnomAD v4: 7-55191743-C-T
• COSMIC: COSM28286
• MyVariant Identifiers: chr7:g.55259436C>T (hg19) ; chr7:g.55191743C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.55191743C>T , CM000669.2:g.55191743C>T	GRCh38
NC_000007.13:g.55259436C>T , CM000669.1:g.55259436C>T	GRCh37
NC_000007.12:g.55226930C>T	NCBI36
NG_007726.3:g.177712C>T , LRG_304:g.177712C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000450046.2:c.2335C>T	ENSP00000413354.2:p.Arg779Cys
ENST00000700145.1:c.843C>T
ENST00000275493.7:c.2494C>T MANE Select	ENSP00000275493.2:p.Arg832Cys
ENST00000275493.6:c.2494C>T	ENSP00000275493.2:p.Arg832Cys
ENST00000442591.5:c.*28+18815C>T	ENSP00000410031.1:n.*28+18815C>T
ENST00000454757.6:c.2359C>T	ENSP00000395243.3:p.Arg787Cys
ENST00000455089.5:c.2359C>T	ENSP00000415559.1:p.Arg787Cys
NM_005228.3:c.2494C>T , LRG_304t1:c.2494C>T	NP_005219.2:p.Arg832Cys
NM_001346897.1:c.2359C>T	NP_001333826.1:p.Arg787Cys
NM_001346898.1:c.2494C>T	NP_001333827.1:p.Arg832Cys
NM_001346899.1:c.2359C>T	NP_001333828.1:p.Arg787Cys
NM_001346900.1:c.2335C>T	NP_001333829.1:p.Arg779Cys
NM_001346941.1:c.1693C>T	NP_001333870.1:p.Arg565Cys
NM_005228.4:c.2494C>T	NP_005219.2:p.Arg832Cys
NM_005228.5:c.2494C>T MANE Select	NP_005219.2:p.Arg832Cys
NM_001346897.2:c.2359C>T	NP_001333826.1:p.Arg787Cys
NM_001346898.2:c.2494C>T	NP_001333827.1:p.Arg832Cys
NM_001346900.2:c.2335C>T	NP_001333829.1:p.Arg779Cys
NM_001346941.2:c.1693C>T	NP_001333870.1:p.Arg565Cys
NM_001346899.2:c.2359C>T	NP_001333828.1:p.Arg787Cys