Canonical Allele Identifier: CA3149800348
Community Standard Title: NM_005228.5(EGFR):c.2501T= (p.Val834=)
Gene: EGFR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.55191750T= , CM000669.2:g.55191750T= GRCh38
NC_000007.13:g.55259443T= , CM000669.1:g.55259443T= GRCh37
NC_000007.12:g.55226937T= NCBI36
NG_007726.3:g.177719T= , LRG_304:g.177719T=

Transcript Alleles

HGVS Amino-acid Change
NM_005228.5:c.2501T= MANE Select NP_005219.2:p.Val834=
ENST00000275493.7:c.2501T= MANE Select ENSP00000275493.2:p.Val834=
NM_001346897.1:c.2366T= NP_001333826.1:p.Val789=
NM_001346897.2:c.2366T= NP_001333826.1:p.Val789=
NM_001346898.1:c.2501T= NP_001333827.1:p.Val834=
NM_001346898.2:c.2501T= NP_001333827.1:p.Val834=
NM_001346899.1:c.2366T= NP_001333828.1:p.Val789=
NM_001346899.2:c.2366T= NP_001333828.1:p.Val789=
NM_001346900.1:c.2342T= NP_001333829.1:p.Val781=
NM_001346900.2:c.2342T= NP_001333829.1:p.Val781=
NM_001346941.1:c.1700T= NP_001333870.1:p.Val567=
NM_001346941.2:c.1700T= NP_001333870.1:p.Val567=
NM_005228.3:c.2501T= , LRG_304t1:c.2501T= NP_005219.2:p.Val834=
NM_005228.4:c.2501T= NP_005219.2:p.Val834=
ENST00000275493.6:c.2501T= ENSP00000275493.2:p.Val834=
ENST00000442591.5:c.*28+18822T= ENSP00000410031.1:n.*28+18822T=
ENST00000450046.2:c.2342T= ENSP00000413354.2:p.Val781=
ENST00000454757.6:c.2366T= ENSP00000395243.3:p.Val789=
ENST00000455089.5:c.2366T= ENSP00000415559.1:p.Val789=
ENST00000700145.1:c.850T=