Canonical Allele Identifier: CA4266238

Gene: EGFR

Linked Data

• ClinVar Variation Id: 360468
• ClinVar RCV Id: RCV000861591 ; RCV001311280 ; RCV002257660
• dbSNP Id: rs55737335
• ExAC: 7:55268949 A / G
• gnomAD v2: 7-55268949-A-G
• gnomAD v3: 7-55201256-A-G
• gnomAD v4: 7-55201256-A-G
• MyVariant Identifiers: chr7:g.55268949A>G (hg19) ; chr7:g.55201256A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.55201256A>G , CM000669.2:g.55201256A>G	GRCh38
NC_000007.13:g.55268949A>G , CM000669.1:g.55268949A>G	GRCh37
NC_000007.12:g.55236443A>G	NCBI36
NG_007726.3:g.187225A>G , LRG_304:g.187225A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000450046.2:c.2856A>G	ENSP00000413354.2:p.Glu952=
ENST00000700145.1:c.900-4091A>G
ENST00000700146.1:n.759A>G
ENST00000700147.1:n.684A>G
ENST00000275493.7:c.3015A>G MANE Select	ENSP00000275493.2:p.Glu1005=
ENST00000275493.6:c.3015A>G	ENSP00000275493.2:p.Glu1005=
ENST00000442591.5:c.*28+28328A>G	ENSP00000410031.1:n.*28+28328A>G
ENST00000454757.6:c.2880A>G	ENSP00000395243.3:p.Glu960=
ENST00000455089.5:c.2880A>G	ENSP00000415559.1:p.Glu960=
NM_005228.3:c.3015A>G , LRG_304t1:c.3015A>G	NP_005219.2:p.Glu1005=
NM_001346897.1:c.2880A>G	NP_001333826.1:p.Glu960=
NM_001346898.1:c.3015A>G	NP_001333827.1:p.Glu1005=
NM_001346899.1:c.2880A>G	NP_001333828.1:p.Glu960=
NM_001346900.1:c.2856A>G	NP_001333829.1:p.Glu952=
NM_001346941.1:c.2214A>G	NP_001333870.1:p.Glu738=
NM_005228.4:c.3015A>G	NP_005219.2:p.Glu1005=
NM_005228.5:c.3015A>G MANE Select	NP_005219.2:p.Glu1005=
NM_001346897.2:c.2880A>G	NP_001333826.1:p.Glu960=
NM_001346898.2:c.3015A>G	NP_001333827.1:p.Glu1005=
NM_001346900.2:c.2856A>G	NP_001333829.1:p.Glu952=
NM_001346941.2:c.2214A>G	NP_001333870.1:p.Glu738=
NM_001346899.2:c.2880A>G	NP_001333828.1:p.Glu960=