Canonical Allele Identifier: CA16602544
Gene: EGFR HGNC NCBI
EGFR-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 376083
ClinVar RCV Id: RCV000420488
dbSNP Id: rs121913432
COSMIC: COSM13433

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.55181327A>G , CM000669.2:g.55181327A>G GRCh38
NC_000007.13:g.55249020A>G , CM000669.1:g.55249020A>G GRCh37
NC_000007.12:g.55216514A>G NCBI36
NG_007726.3:g.167296A>G , LRG_304:g.167296A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000275493.7:c.2318A>G (EGFR) MANE Select ENSP00000275493.2:p.His773Arg
ENST00000275493.6:c.2318A>G ENSP00000275493.2:p.His773Arg
ENST00000442591.5:c.*28+8399A>G ENSP00000410031.1:p.=
ENST00000454757.6:c.2183A>G ENSP00000395243.3:p.His728Arg
ENST00000455089.5:c.2183A>G ENSP00000415559.1:p.His728Arg
NM_005228.3:c.2318A>G , LRG_304t1:c.2318A>G (EGFR) NP_005219.2:p.His773Arg
NR_047551.1:n.1244T>C (EGFR-AS1)
NM_001346897.1:c.2183A>G (EGFR) NP_001333826.1:p.His728Arg
NM_001346898.1:c.2318A>G (EGFR) NP_001333827.1:p.His773Arg
NM_001346899.1:c.2183A>G (EGFR) NP_001333828.1:p.His728Arg
NM_001346900.1:c.2159A>G (EGFR) NP_001333829.1:p.His720Arg
NM_001346941.1:c.1517A>G (EGFR) NP_001333870.1:p.His506Arg
NM_005228.4:c.2318A>G (EGFR) NP_005219.2:p.His773Arg
NM_005228.5:c.2318A>G (EGFR) MANE Select NP_005219.2:p.His773Arg
NM_001346897.2:c.2183A>G (EGFR) NP_001333826.1:p.His728Arg
NM_001346898.2:c.2318A>G (EGFR) NP_001333827.1:p.His773Arg
NM_001346900.2:c.2159A>G (EGFR) NP_001333829.1:p.His720Arg
NM_001346941.2:c.1517A>G (EGFR) NP_001333870.1:p.His506Arg
NM_001346899.2:c.2183A>G (EGFR) NP_001333828.1:p.His728Arg