Canonical Allele Identifier: CA367584066
Gene: EGFR HGNC NCBI

Linked Data

dbSNP Id: rs2128954633

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.55174752A>T , CM000669.2:g.55174752A>T GRCh38
NC_000007.13:g.55242445A>T , CM000669.1:g.55242445A>T GRCh37
NC_000007.12:g.55209939A>T NCBI36
NG_007726.3:g.160721A>T , LRG_304:g.160721A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000450046.2:c.2056A>T ENSP00000413354.2:p.Lys686Ter
ENST00000700145.1:c.564A>T
ENST00000275493.7:c.2215A>T MANE Select ENSP00000275493.2:p.Lys739Ter
ENST00000275493.6:c.2215A>T ENSP00000275493.2:p.Lys739Ter
ENST00000442591.5:c.*28+1824A>T ENSP00000410031.1:n.*28+1824A>T
ENST00000454757.6:c.2080A>T ENSP00000395243.3:p.Lys694Ter
ENST00000455089.5:c.2080A>T ENSP00000415559.1:p.Lys694Ter
NM_005228.3:c.2215A>T , LRG_304t1:c.2215A>T NP_005219.2:p.Lys739Ter
NM_001346897.1:c.2080A>T NP_001333826.1:p.Lys694Ter
NM_001346898.1:c.2215A>T NP_001333827.1:p.Lys739Ter
NM_001346899.1:c.2080A>T NP_001333828.1:p.Lys694Ter
NM_001346900.1:c.2056A>T NP_001333829.1:p.Lys686Ter
NM_001346941.1:c.1414A>T NP_001333870.1:p.Lys472Ter
NM_005228.4:c.2215A>T NP_005219.2:p.Lys739Ter
NM_005228.5:c.2215A>T MANE Select NP_005219.2:p.Lys739Ter
NM_001346897.2:c.2080A>T NP_001333826.1:p.Lys694Ter
NM_001346898.2:c.2215A>T NP_001333827.1:p.Lys739Ter
NM_001346900.2:c.2056A>T NP_001333829.1:p.Lys686Ter
NM_001346941.2:c.1414A>T NP_001333870.1:p.Lys472Ter
NM_001346899.2:c.2080A>T NP_001333828.1:p.Lys694Ter