Canonical Allele Identifier: CA367582388
Gene: EGFR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.55201213G>T , CM000669.2:g.55201213G>T GRCh38
NC_000007.13:g.55268906G>T , CM000669.1:g.55268906G>T GRCh37
NC_000007.12:g.55236400G>T NCBI36
NG_007726.3:g.187182G>T , LRG_304:g.187182G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000450046.2:c.2813G>T ENSP00000413354.2:p.Ser938Ile
ENST00000700145.1:c.900-4134G>T
ENST00000700146.1:n.716G>T
ENST00000700147.1:n.641G>T
ENST00000275493.7:c.2972G>T MANE Select ENSP00000275493.2:p.Ser991Ile
ENST00000275493.6:c.2972G>T ENSP00000275493.2:p.Ser991Ile
ENST00000442591.5:c.*28+28285G>T ENSP00000410031.1:n.*28+28285G>T
ENST00000454757.6:c.2837G>T ENSP00000395243.3:p.Ser946Ile
ENST00000455089.5:c.2837G>T ENSP00000415559.1:p.Ser946Ile
NM_005228.3:c.2972G>T , LRG_304t1:c.2972G>T NP_005219.2:p.Ser991Ile
NM_001346897.1:c.2837G>T NP_001333826.1:p.Ser946Ile
NM_001346898.1:c.2972G>T NP_001333827.1:p.Ser991Ile
NM_001346899.1:c.2837G>T NP_001333828.1:p.Ser946Ile
NM_001346900.1:c.2813G>T NP_001333829.1:p.Ser938Ile
NM_001346941.1:c.2171G>T NP_001333870.1:p.Ser724Ile
NM_005228.4:c.2972G>T NP_005219.2:p.Ser991Ile
NM_005228.5:c.2972G>T MANE Select NP_005219.2:p.Ser991Ile
NM_001346897.2:c.2837G>T NP_001333826.1:p.Ser946Ile
NM_001346898.2:c.2972G>T NP_001333827.1:p.Ser991Ile
NM_001346900.2:c.2813G>T NP_001333829.1:p.Ser938Ile
NM_001346941.2:c.2171G>T NP_001333870.1:p.Ser724Ile
NM_001346899.2:c.2837G>T NP_001333828.1:p.Ser946Ile