Canonical Allele Identifier: CA367578749
Community Standard Title: NM_005228.5(EGFR):c.2326C>T (p.Arg776Cys)
Gene: EGFR HGNC NCBI
EGFR-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.55181335C>T , CM000669.2:g.55181335C>T GRCh38
NC_000007.13:g.55249028C>T , CM000669.1:g.55249028C>T GRCh37
NC_000007.12:g.55216522C>T NCBI36
NG_007726.3:g.167304C>T , LRG_304:g.167304C>T

Transcript Alleles

HGVS Amino-acid Change
NM_005228.5:c.2326C>T (EGFR) MANE Select NP_005219.2:p.Arg776Cys
ENST00000275493.7:c.2326C>T (EGFR) MANE Select ENSP00000275493.2:p.Arg776Cys
NM_001346897.1:c.2191C>T (EGFR) NP_001333826.1:p.Arg731Cys
NM_001346897.2:c.2191C>T (EGFR) NP_001333826.1:p.Arg731Cys
NM_001346898.1:c.2326C>T (EGFR) NP_001333827.1:p.Arg776Cys
NM_001346898.2:c.2326C>T (EGFR) NP_001333827.1:p.Arg776Cys
NM_001346899.1:c.2191C>T (EGFR) NP_001333828.1:p.Arg731Cys
NM_001346899.2:c.2191C>T (EGFR) NP_001333828.1:p.Arg731Cys
NM_001346900.1:c.2167C>T (EGFR) NP_001333829.1:p.Arg723Cys
NM_001346900.2:c.2167C>T (EGFR) NP_001333829.1:p.Arg723Cys
NM_001346941.1:c.1525C>T (EGFR) NP_001333870.1:p.Arg509Cys
NM_001346941.2:c.1525C>T (EGFR) NP_001333870.1:p.Arg509Cys
NM_005228.3:c.2326C>T , LRG_304t1:c.2326C>T (EGFR) NP_005219.2:p.Arg776Cys
NM_005228.4:c.2326C>T (EGFR) NP_005219.2:p.Arg776Cys
NR_047551.1:n.1236G>A (EGFR-AS1)
ENST00000275493.6:c.2326C>T (EGFR) ENSP00000275493.2:p.Arg776Cys
ENST00000442591.5:c.*28+8407C>T (EGFR) ENSP00000410031.1:n.*28+8407C>T
ENST00000450046.2:c.2167C>T (EGFR) ENSP00000413354.2:p.Arg723Cys
ENST00000454757.6:c.2191C>T (EGFR) ENSP00000395243.3:p.Arg731Cys
ENST00000455089.5:c.2191C>T (EGFR) ENSP00000415559.1:p.Arg731Cys
ENST00000700145.1:c.675C>T (EGFR)