Canonical Allele Identifier: CA367578594
Gene: EGFR HGNC NCBI
EGFR-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1015382
ClinVar RCV Id: RCV001314232
dbSNP Id: rs121913465
COSMIC: COSM12989

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000450046.2:c.2144G>A (EGFR) ENSP00000413354.2:p.Ser715Asn
ENST00000700145.1:c.652G>A (EGFR)
ENST00000275493.7:c.2303G>A (EGFR) MANE Select ENSP00000275493.2:p.Ser768Asn
ENST00000275493.6:c.2303G>A (EGFR) ENSP00000275493.2:p.Ser768Asn
ENST00000442591.5:c.*28+8384G>A (EGFR) ENSP00000410031.1:n.*28+8384G>A
ENST00000454757.6:c.2168G>A (EGFR) ENSP00000395243.3:p.Ser723Asn
ENST00000455089.5:c.2168G>A (EGFR) ENSP00000415559.1:p.Ser723Asn
NM_005228.3:c.2303G>A , LRG_304t1:c.2303G>A (EGFR) NP_005219.2:p.Ser768Asn
NR_047551.1:n.1259C>T (EGFR-AS1)
NM_001346897.1:c.2168G>A (EGFR) NP_001333826.1:p.Ser723Asn
NM_001346898.1:c.2303G>A (EGFR) NP_001333827.1:p.Ser768Asn
NM_001346899.1:c.2168G>A (EGFR) NP_001333828.1:p.Ser723Asn
NM_001346900.1:c.2144G>A (EGFR) NP_001333829.1:p.Ser715Asn
NM_001346941.1:c.1502G>A (EGFR) NP_001333870.1:p.Ser501Asn
NM_005228.4:c.2303G>A (EGFR) NP_005219.2:p.Ser768Asn
NM_005228.5:c.2303G>A (EGFR) MANE Select NP_005219.2:p.Ser768Asn
NM_001346897.2:c.2168G>A (EGFR) NP_001333826.1:p.Ser723Asn
NM_001346898.2:c.2303G>A (EGFR) NP_001333827.1:p.Ser768Asn
NM_001346900.2:c.2144G>A (EGFR) NP_001333829.1:p.Ser715Asn
NM_001346941.2:c.1502G>A (EGFR) NP_001333870.1:p.Ser501Asn
NM_001346899.2:c.2168G>A (EGFR) NP_001333828.1:p.Ser723Asn