Canonical Allele Identifier: CA367580065
Gene: EGFR HGNC NCBI

Linked Data

ClinVar Variation Id: 1446347
ClinVar RCV Id: RCV001992816

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.55191722A>C , CM000669.2:g.55191722A>C GRCh38
NC_000007.13:g.55259415A>C , CM000669.1:g.55259415A>C GRCh37
NC_000007.12:g.55226909A>C NCBI36
NG_007726.3:g.177691A>C , LRG_304:g.177691A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000275493.7:c.2473A>C MANE Select ENSP00000275493.2:p.Met825Leu
ENST00000275493.6:c.2473A>C ENSP00000275493.2:p.Met825Leu
ENST00000442591.5:c.*28+18794A>C ENSP00000410031.1:n.*28+18794A>C
ENST00000454757.6:c.2338A>C ENSP00000395243.3:p.Met780Leu
ENST00000455089.5:c.2338A>C ENSP00000415559.1:p.Met780Leu
NM_005228.3:c.2473A>C , LRG_304t1:c.2473A>C NP_005219.2:p.Met825Leu
NM_001346897.1:c.2338A>C NP_001333826.1:p.Met780Leu
NM_001346898.1:c.2473A>C NP_001333827.1:p.Met825Leu
NM_001346899.1:c.2338A>C NP_001333828.1:p.Met780Leu
NM_001346900.1:c.2314A>C NP_001333829.1:p.Met772Leu
NM_001346941.1:c.1672A>C NP_001333870.1:p.Met558Leu
NM_005228.4:c.2473A>C NP_005219.2:p.Met825Leu
NM_005228.5:c.2473A>C MANE Select NP_005219.2:p.Met825Leu
NM_001346897.2:c.2338A>C NP_001333826.1:p.Met780Leu
NM_001346898.2:c.2473A>C NP_001333827.1:p.Met825Leu
NM_001346900.2:c.2314A>C NP_001333829.1:p.Met772Leu
NM_001346941.2:c.1672A>C NP_001333870.1:p.Met558Leu
NM_001346899.2:c.2338A>C NP_001333828.1:p.Met780Leu