Canonical Allele Identifier: CA367580307
Gene: EGFR HGNC NCBI

Linked Data

ClinVar Variation Id: 1426844
ClinVar RCV Id: RCV001929623
dbSNP Id: rs2128964666
gnomAD v4: 7-55191840-C-T
COSMIC: COSM219795

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.55191840C>T , CM000669.2:g.55191840C>T GRCh38
NC_000007.13:g.55259533C>T , CM000669.1:g.55259533C>T GRCh37
NC_000007.12:g.55227027C>T NCBI36
NG_007726.3:g.177809C>T , LRG_304:g.177809C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000450046.2:c.2432C>T ENSP00000413354.2:p.Ala811Val
ENST00000700145.1:c.899+41C>T
ENST00000275493.7:c.2591C>T MANE Select ENSP00000275493.2:p.Ala864Val
ENST00000275493.6:c.2591C>T ENSP00000275493.2:p.Ala864Val
ENST00000442591.5:c.*28+18912C>T ENSP00000410031.1:n.*28+18912C>T
ENST00000454757.6:c.2456C>T ENSP00000395243.3:p.Ala819Val
ENST00000455089.5:c.2456C>T ENSP00000415559.1:p.Ala819Val
NM_005228.3:c.2591C>T , LRG_304t1:c.2591C>T NP_005219.2:p.Ala864Val
NM_001346897.1:c.2456C>T NP_001333826.1:p.Ala819Val
NM_001346898.1:c.2591C>T NP_001333827.1:p.Ala864Val
NM_001346899.1:c.2456C>T NP_001333828.1:p.Ala819Val
NM_001346900.1:c.2432C>T NP_001333829.1:p.Ala811Val
NM_001346941.1:c.1790C>T NP_001333870.1:p.Ala597Val
NM_005228.4:c.2591C>T NP_005219.2:p.Ala864Val
NM_005228.5:c.2591C>T MANE Select NP_005219.2:p.Ala864Val
NM_001346897.2:c.2456C>T NP_001333826.1:p.Ala819Val
NM_001346898.2:c.2591C>T NP_001333827.1:p.Ala864Val
NM_001346900.2:c.2432C>T NP_001333829.1:p.Ala811Val
NM_001346941.2:c.1790C>T NP_001333870.1:p.Ala597Val
NM_001346899.2:c.2456C>T NP_001333828.1:p.Ala819Val