Canonical Allele Identifier: CA16603146
Gene: EGFR HGNC NCBI

Linked Data

ClinVar Variation Id: 376740
ClinVar RCV Id: RCV000444877
dbSNP Id: rs1057520037

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.55174782G>C , CM000669.2:g.55174782G>C GRCh38
NC_000007.13:g.55242475G>C , CM000669.1:g.55242475G>C GRCh37
NC_000007.12:g.55209969G>C NCBI36
NG_007726.3:g.160751G>C , LRG_304:g.160751G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000450046.2:c.2086G>C ENSP00000413354.2:p.Glu696Gln
ENST00000700145.1:c.594G>C
ENST00000275493.7:c.2245G>C MANE Select ENSP00000275493.2:p.Glu749Gln
ENST00000275493.6:c.2245G>C ENSP00000275493.2:p.Glu749Gln
ENST00000442591.5:c.*28+1854G>C ENSP00000410031.1:n.*28+1854G>C
ENST00000454757.6:c.2110G>C ENSP00000395243.3:p.Glu704Gln
ENST00000455089.5:c.2110G>C ENSP00000415559.1:p.Glu704Gln
NM_005228.3:c.2245G>C , LRG_304t1:c.2245G>C NP_005219.2:p.Glu749Gln
NM_001346897.1:c.2110G>C NP_001333826.1:p.Glu704Gln
NM_001346898.1:c.2245G>C NP_001333827.1:p.Glu749Gln
NM_001346899.1:c.2110G>C NP_001333828.1:p.Glu704Gln
NM_001346900.1:c.2086G>C NP_001333829.1:p.Glu696Gln
NM_001346941.1:c.1444G>C NP_001333870.1:p.Glu482Gln
NM_005228.4:c.2245G>C NP_005219.2:p.Glu749Gln
NM_005228.5:c.2245G>C MANE Select NP_005219.2:p.Glu749Gln
NM_001346897.2:c.2110G>C NP_001333826.1:p.Glu704Gln
NM_001346898.2:c.2245G>C NP_001333827.1:p.Glu749Gln
NM_001346900.2:c.2086G>C NP_001333829.1:p.Glu696Gln
NM_001346941.2:c.1444G>C NP_001333870.1:p.Glu482Gln
NM_001346899.2:c.2110G>C NP_001333828.1:p.Glu704Gln