Canonical Allele Identifier: CA135837
Gene: EGFR HGNC NCBI
EGFR-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 45250
dbSNP Id: rs397517107
COSMIC: COSM26445

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.55181309C>T , CM000669.2:g.55181309C>T GRCh38
NC_000007.13:g.55249002C>T , CM000669.1:g.55249002C>T GRCh37
NC_000007.12:g.55216496C>T NCBI36
NG_007726.3:g.167278C>T , LRG_304:g.167278C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000450046.2:c.2141C>T (EGFR) ENSP00000413354.2:p.Ala714Val
ENST00000700145.1:c.649C>T (EGFR)
ENST00000275493.7:c.2300C>T (EGFR) MANE Select ENSP00000275493.2:p.Ala767Val
ENST00000275493.6:c.2300C>T (EGFR) ENSP00000275493.2:p.Ala767Val
ENST00000442591.5:c.*28+8381C>T (EGFR) ENSP00000410031.1:n.*28+8381C>T
ENST00000454757.6:c.2165C>T (EGFR) ENSP00000395243.3:p.Ala722Val
ENST00000455089.5:c.2165C>T (EGFR) ENSP00000415559.1:p.Ala722Val
NM_005228.3:c.2300C>T , LRG_304t1:c.2300C>T (EGFR) NP_005219.2:p.Ala767Val
NR_047551.1:n.1262G>A (EGFR-AS1)
NM_001346897.1:c.2165C>T (EGFR) NP_001333826.1:p.Ala722Val
NM_001346898.1:c.2300C>T (EGFR) NP_001333827.1:p.Ala767Val
NM_001346899.1:c.2165C>T (EGFR) NP_001333828.1:p.Ala722Val
NM_001346900.1:c.2141C>T (EGFR) NP_001333829.1:p.Ala714Val
NM_001346941.1:c.1499C>T (EGFR) NP_001333870.1:p.Ala500Val
NM_005228.4:c.2300C>T (EGFR) NP_005219.2:p.Ala767Val
NM_005228.5:c.2300C>T (EGFR) MANE Select NP_005219.2:p.Ala767Val
NM_001346897.2:c.2165C>T (EGFR) NP_001333826.1:p.Ala722Val
NM_001346898.2:c.2300C>T (EGFR) NP_001333827.1:p.Ala767Val
NM_001346900.2:c.2141C>T (EGFR) NP_001333829.1:p.Ala714Val
NM_001346941.2:c.1499C>T (EGFR) NP_001333870.1:p.Ala500Val
NM_001346899.2:c.2165C>T (EGFR) NP_001333828.1:p.Ala722Val