Canonical Allele Identifier: CA367580279
Gene: EGFR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.55191824G>C , CM000669.2:g.55191824G>C GRCh38
NC_000007.13:g.55259517G>C , CM000669.1:g.55259517G>C GRCh37
NC_000007.12:g.55227011G>C NCBI36
NG_007726.3:g.177793G>C , LRG_304:g.177793G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000450046.2:c.2416G>C ENSP00000413354.2:p.Ala806Pro
ENST00000700145.1:c.899+25G>C
ENST00000275493.7:c.2575G>C MANE Select ENSP00000275493.2:p.Ala859Pro
ENST00000275493.6:c.2575G>C ENSP00000275493.2:p.Ala859Pro
ENST00000442591.5:c.*28+18896G>C ENSP00000410031.1:n.*28+18896G>C
ENST00000454757.6:c.2440G>C ENSP00000395243.3:p.Ala814Pro
ENST00000455089.5:c.2440G>C ENSP00000415559.1:p.Ala814Pro
NM_005228.3:c.2575G>C , LRG_304t1:c.2575G>C NP_005219.2:p.Ala859Pro
NM_001346897.1:c.2440G>C NP_001333826.1:p.Ala814Pro
NM_001346898.1:c.2575G>C NP_001333827.1:p.Ala859Pro
NM_001346899.1:c.2440G>C NP_001333828.1:p.Ala814Pro
NM_001346900.1:c.2416G>C NP_001333829.1:p.Ala806Pro
NM_001346941.1:c.1774G>C NP_001333870.1:p.Ala592Pro
NM_005228.4:c.2575G>C NP_005219.2:p.Ala859Pro
NM_005228.5:c.2575G>C MANE Select NP_005219.2:p.Ala859Pro
NM_001346897.2:c.2440G>C NP_001333826.1:p.Ala814Pro
NM_001346898.2:c.2575G>C NP_001333827.1:p.Ala859Pro
NM_001346900.2:c.2416G>C NP_001333829.1:p.Ala806Pro
NM_001346941.2:c.1774G>C NP_001333870.1:p.Ala592Pro
NM_001346899.2:c.2440G>C NP_001333828.1:p.Ala814Pro