Canonical Allele Identifier: CA16602727
Gene: EGFR HGNC NCBI
EGFR-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 376279
ClinVar RCV Id: RCV000425650
dbSNP Id: rs121913431
COSMIC: COSM12986

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.55181438G>A , CM000669.2:g.55181438G>A GRCh38
NC_000007.13:g.55249131G>A , CM000669.1:g.55249131G>A GRCh37
NC_000007.12:g.55216625G>A NCBI36
NG_007726.3:g.167407G>A , LRG_304:g.167407G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000275493.7:c.2429G>A MANE Select ENSP00000275493.2:p.Gly810Asp
ENST00000275493.6:c.2429G>A ENSP00000275493.2:p.Gly810Asp
ENST00000442591.5:c.*28+8510G>A ENSP00000410031.1:p.=
ENST00000454757.6:c.2294G>A ENSP00000395243.3:p.Gly765Asp
ENST00000455089.5:c.2294G>A ENSP00000415559.1:p.Gly765Asp
NM_005228.3:c.2429G>A , LRG_304t1:c.2429G>A (EGFR) NP_005219.2:p.Gly810Asp
NR_047551.1:n.1133C>T (EGFR-AS1)
NM_001346897.1:c.2294G>A (EGFR) NP_001333826.1:p.Gly765Asp
NM_001346898.1:c.2429G>A (EGFR) NP_001333827.1:p.Gly810Asp
NM_001346899.1:c.2294G>A (EGFR) NP_001333828.1:p.Gly765Asp
NM_001346900.1:c.2270G>A (EGFR) NP_001333829.1:p.Gly757Asp
NM_001346941.1:c.1628G>A (EGFR) NP_001333870.1:p.Gly543Asp
NM_005228.4:c.2429G>A (EGFR) NP_005219.2:p.Gly810Asp
NM_005228.5:c.2429G>A (EGFR) MANE Select NP_005219.2:p.Gly810Asp
NM_001346897.2:c.2294G>A (EGFR) NP_001333826.1:p.Gly765Asp
NM_001346898.2:c.2429G>A (EGFR) NP_001333827.1:p.Gly810Asp
NM_001346900.2:c.2270G>A (EGFR) NP_001333829.1:p.Gly757Asp
NM_001346941.2:c.1628G>A (EGFR) NP_001333870.1:p.Gly543Asp
NM_001346899.2:c.2294G>A (EGFR) NP_001333828.1:p.Gly765Asp