Canonical Allele Identifier: CA16602784
Gene: EGFR HGNC NCBI

Linked Data

ClinVar Variation Id: 376341
ClinVar RCV Id: RCV000423834
dbSNP Id: rs1057519860
COSMIC: COSM236670
MyVariant Identifiers: chr7:g.55228009C>A (hg19) chr7:g.55160316C>A (hg38)
PubMed: PMID:22270724
CIViC: CA16602784
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.55160316C>A , CM000669.2:g.55160316C>A GRCh38
NC_000007.13:g.55228009C>A , CM000669.1:g.55228009C>A GRCh37
NC_000007.12:g.55195503C>A NCBI36
NG_007726.3:g.146285C>A , LRG_304:g.146285C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000450046.2:c.1317C>A ENSP00000413354.2:p.Ser439Arg
ENST00000344576.7:c.1476C>A ENSP00000345973.2:p.Ser492Arg
ENST00000275493.7:c.1476C>A MANE Select ENSP00000275493.2:p.Ser492Arg
ENST00000275493.6:c.1476C>A ENSP00000275493.2:p.Ser492Arg
ENST00000342916.7:c.1476C>A ENSP00000342376.3:p.Ser492Arg
ENST00000344576.6:c.1476C>A ENSP00000345973.2:p.Ser492Arg
ENST00000442591.5:c.1476C>A ENSP00000410031.1:p.Ser492Arg
ENST00000454757.6:c.1341C>A ENSP00000395243.3:p.Ser447Arg
ENST00000455089.5:c.1341C>A ENSP00000415559.1:p.Ser447Arg
NM_005228.3:c.1476C>A , LRG_304t1:c.1476C>A NP_005219.2:p.Ser492Arg
NM_201282.1:c.1476C>A NP_958439.1:p.Ser492Arg
NM_201284.1:c.1476C>A NP_958441.1:p.Ser492Arg
NM_001346897.1:c.1341C>A NP_001333826.1:p.Ser447Arg
NM_001346898.1:c.1476C>A NP_001333827.1:p.Ser492Arg
NM_001346899.1:c.1341C>A NP_001333828.1:p.Ser447Arg
NM_001346900.1:c.1317C>A NP_001333829.1:p.Ser439Arg
NM_001346941.1:c.675C>A NP_001333870.1:p.Ser225Arg
NM_005228.4:c.1476C>A NP_005219.2:p.Ser492Arg
NM_005228.5:c.1476C>A MANE Select NP_005219.2:p.Ser492Arg
NM_001346897.2:c.1341C>A NP_001333826.1:p.Ser447Arg
NM_001346898.2:c.1476C>A NP_001333827.1:p.Ser492Arg
NM_001346900.2:c.1317C>A NP_001333829.1:p.Ser439Arg
NM_001346941.2:c.675C>A NP_001333870.1:p.Ser225Arg
NM_201282.2:c.1476C>A NP_958439.1:p.Ser492Arg
NM_201284.2:c.1476C>A NP_958441.1:p.Ser492Arg
NM_001346899.2:c.1341C>A NP_001333828.1:p.Ser447Arg
Search 100 bp 5'
Search 100 bp 3'