Canonical Allele Identifier: CA4265355

Gene: EGFR

Linked Data

• ClinVar Variation Id: 852919
• ClinVar RCV Id: RCV001057634 ; RCV003238292
• dbSNP Id: rs760101437
• ExAC: 7:55221711 G / A
• gnomAD v2: 7-55221711-G-A
• gnomAD v3: 7-55154018-G-A
• gnomAD v4: 7-55154018-G-A
• COSMIC: COSM1176673 ; COSM1176674
• MyVariant Identifiers: chr7:g.55221711G>A (hg19) ; chr7:g.55154018G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.55154018G>A , CM000669.2:g.55154018G>A	GRCh38
NC_000007.13:g.55221711G>A , CM000669.1:g.55221711G>A	GRCh37
NC_000007.12:g.55189205G>A	NCBI36
NG_007726.3:g.139987G>A , LRG_304:g.139987G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450046.2:c.596G>A	ENSP00000413354.2:p.Arg199His
ENST00000700144.1:n.945G>A
ENST00000344576.7:c.755G>A	ENSP00000345973.2:p.Arg252His
ENST00000275493.7:c.755G>A MANE Select	ENSP00000275493.2:p.Arg252His
ENST00000275493.6:c.755G>A	ENSP00000275493.2:p.Arg252His
ENST00000342916.7:c.755G>A	ENSP00000342376.3:p.Arg252His
ENST00000344576.6:c.755G>A	ENSP00000345973.2:p.Arg252His
ENST00000420316.6:c.755G>A	ENSP00000413843.2:p.Arg252His
ENST00000442591.5:c.755G>A	ENSP00000410031.1:p.Arg252His
ENST00000454757.6:c.620G>A	ENSP00000395243.3:p.Arg207His
ENST00000455089.5:c.620G>A	ENSP00000415559.1:p.Arg207His
NM_005228.3:c.755G>A , LRG_304t1:c.755G>A	NP_005219.2:p.Arg252His
NM_201282.1:c.755G>A	NP_958439.1:p.Arg252His
NM_201283.1:c.755G>A	NP_958440.1:p.Arg252His
NM_201284.1:c.755G>A	NP_958441.1:p.Arg252His
NM_001346897.1:c.620G>A	NP_001333826.1:p.Arg207His
NM_001346898.1:c.755G>A	NP_001333827.1:p.Arg252His
NM_001346899.1:c.620G>A	NP_001333828.1:p.Arg207His
NM_001346900.1:c.596G>A	NP_001333829.1:p.Arg199His
NM_001346941.1:c.89-1812G>A	NP_001333870.1:n.89-1812G>A
NM_005228.4:c.755G>A	NP_005219.2:p.Arg252His
NM_005228.5:c.755G>A MANE Select	NP_005219.2:p.Arg252His
NM_001346897.2:c.620G>A	NP_001333826.1:p.Arg207His
NM_001346898.2:c.755G>A	NP_001333827.1:p.Arg252His
NM_001346900.2:c.596G>A	NP_001333829.1:p.Arg199His
NM_001346941.2:c.89-1812G>A	NP_001333870.1:n.89-1812G>A
NM_201282.2:c.755G>A	NP_958439.1:p.Arg252His
NM_201284.2:c.755G>A	NP_958441.1:p.Arg252His
NM_001346899.2:c.620G>A	NP_001333828.1:p.Arg207His
NM_201283.2:c.755G>A	NP_958440.1:p.Arg252His