Canonical Allele Identifier: CA135840
Gene: EGFR HGNC NCBI
EGFR-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 45251
dbSNP Id: rs121913465
COSMIC: COSM6241
CIViC: CA135840

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.55181312G>T , CM000669.2:g.55181312G>T GRCh38
NC_000007.13:g.55249005G>T , CM000669.1:g.55249005G>T GRCh37
NC_000007.12:g.55216499G>T NCBI36
NG_007726.3:g.167281G>T , LRG_304:g.167281G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000275493.7:c.2303G>T MANE Select ENSP00000275493.2:p.Ser768Ile
ENST00000275493.6:c.2303G>T ENSP00000275493.2:p.Ser768Ile
ENST00000442591.5:c.*28+8384G>T ENSP00000410031.1:p.=
ENST00000454757.6:c.2168G>T ENSP00000395243.3:p.Ser723Ile
ENST00000455089.5:c.2168G>T ENSP00000415559.1:p.Ser723Ile
NM_005228.3:c.2303G>T , LRG_304t1:c.2303G>T (EGFR) NP_005219.2:p.Ser768Ile
NR_047551.1:n.1259C>A (EGFR-AS1)
NM_001346897.1:c.2168G>T (EGFR) NP_001333826.1:p.Ser723Ile
NM_001346898.1:c.2303G>T (EGFR) NP_001333827.1:p.Ser768Ile
NM_001346899.1:c.2168G>T (EGFR) NP_001333828.1:p.Ser723Ile
NM_001346900.1:c.2144G>T (EGFR) NP_001333829.1:p.Ser715Ile
NM_001346941.1:c.1502G>T (EGFR) NP_001333870.1:p.Ser501Ile
NM_005228.4:c.2303G>T (EGFR) NP_005219.2:p.Ser768Ile
NM_005228.5:c.2303G>T (EGFR) MANE Select NP_005219.2:p.Ser768Ile
NM_001346897.2:c.2168G>T (EGFR) NP_001333826.1:p.Ser723Ile
NM_001346898.2:c.2303G>T (EGFR) NP_001333827.1:p.Ser768Ile
NM_001346900.2:c.2144G>T (EGFR) NP_001333829.1:p.Ser715Ile
NM_001346941.2:c.1502G>T (EGFR) NP_001333870.1:p.Ser501Ile
NM_001346899.2:c.2168G>T (EGFR) NP_001333828.1:p.Ser723Ile