Canonical Allele Identifier: CA135936
Gene: EGFR HGNC NCBI

Linked Data

ClinVar Variation Id: 45285
ClinVar RCV Id: RCV000038441
dbSNP Id: rs397517129

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.55191823G>T , CM000669.2:g.55191823G>T GRCh38
NC_000007.13:g.55259516G>T , CM000669.1:g.55259516G>T GRCh37
NC_000007.12:g.55227010G>T NCBI36
NG_007726.3:g.177792G>T , LRG_304:g.177792G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000275493.7:c.2574G>T MANE Select ENSP00000275493.2:p.Leu858=
ENST00000275493.6:c.2574G>T ENSP00000275493.2:p.Leu858=
ENST00000442591.5:c.*28+18895G>T ENSP00000410031.1:n.*28+18895G>T
ENST00000454757.6:c.2439G>T ENSP00000395243.3:p.Leu813=
ENST00000455089.5:c.2439G>T ENSP00000415559.1:p.Leu813=
NM_005228.3:c.2574G>T , LRG_304t1:c.2574G>T NP_005219.2:p.Leu858=
NM_001346897.1:c.2439G>T NP_001333826.1:p.Leu813=
NM_001346898.1:c.2574G>T NP_001333827.1:p.Leu858=
NM_001346899.1:c.2439G>T NP_001333828.1:p.Leu813=
NM_001346900.1:c.2415G>T NP_001333829.1:p.Leu805=
NM_001346941.1:c.1773G>T NP_001333870.1:p.Leu591=
NM_005228.4:c.2574G>T NP_005219.2:p.Leu858=
NM_005228.5:c.2574G>T MANE Select NP_005219.2:p.Leu858=
NM_001346897.2:c.2439G>T NP_001333826.1:p.Leu813=
NM_001346898.2:c.2574G>T NP_001333827.1:p.Leu858=
NM_001346900.2:c.2415G>T NP_001333829.1:p.Leu805=
NM_001346941.2:c.1773G>T NP_001333870.1:p.Leu591=
NM_001346899.2:c.2439G>T NP_001333828.1:p.Leu813=