Canonical Allele Identifier: CA367577599
Gene: EGFR HGNC NCBI

Linked Data

ClinVar Variation Id: 1934680
ClinVar RCV Id: RCV002632127
dbSNP Id: rs775252718
gnomAD v3: 7-55154017-C-T
gnomAD v4: 7-55154017-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.55154017C>T , CM000669.2:g.55154017C>T GRCh38
NC_000007.13:g.55221710C>T , CM000669.1:g.55221710C>T GRCh37
NC_000007.12:g.55189204C>T NCBI36
NG_007726.3:g.139986C>T , LRG_304:g.139986C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000450046.2:c.595C>T ENSP00000413354.2:p.Arg199Cys
ENST00000700144.1:n.944C>T
ENST00000344576.7:c.754C>T ENSP00000345973.2:p.Arg252Cys
ENST00000275493.7:c.754C>T MANE Select ENSP00000275493.2:p.Arg252Cys
ENST00000275493.6:c.754C>T ENSP00000275493.2:p.Arg252Cys
ENST00000342916.7:c.754C>T ENSP00000342376.3:p.Arg252Cys
ENST00000344576.6:c.754C>T ENSP00000345973.2:p.Arg252Cys
ENST00000420316.6:c.754C>T ENSP00000413843.2:p.Arg252Cys
ENST00000442591.5:c.754C>T ENSP00000410031.1:p.Arg252Cys
ENST00000454757.6:c.619C>T ENSP00000395243.3:p.Arg207Cys
ENST00000455089.5:c.619C>T ENSP00000415559.1:p.Arg207Cys
NM_005228.3:c.754C>T , LRG_304t1:c.754C>T NP_005219.2:p.Arg252Cys
NM_201282.1:c.754C>T NP_958439.1:p.Arg252Cys
NM_201283.1:c.754C>T NP_958440.1:p.Arg252Cys
NM_201284.1:c.754C>T NP_958441.1:p.Arg252Cys
NM_001346897.1:c.619C>T NP_001333826.1:p.Arg207Cys
NM_001346898.1:c.754C>T NP_001333827.1:p.Arg252Cys
NM_001346899.1:c.619C>T NP_001333828.1:p.Arg207Cys
NM_001346900.1:c.595C>T NP_001333829.1:p.Arg199Cys
NM_001346941.1:c.89-1813C>T NP_001333870.1:n.89-1813C>T
NM_005228.4:c.754C>T NP_005219.2:p.Arg252Cys
NM_005228.5:c.754C>T MANE Select NP_005219.2:p.Arg252Cys
NM_001346897.2:c.619C>T NP_001333826.1:p.Arg207Cys
NM_001346898.2:c.754C>T NP_001333827.1:p.Arg252Cys
NM_001346900.2:c.595C>T NP_001333829.1:p.Arg199Cys
NM_001346941.2:c.89-1813C>T NP_001333870.1:n.89-1813C>T
NM_201282.2:c.754C>T NP_958439.1:p.Arg252Cys
NM_201284.2:c.754C>T NP_958441.1:p.Arg252Cys
NM_001346899.2:c.619C>T NP_001333828.1:p.Arg207Cys
NM_201283.2:c.754C>T NP_958440.1:p.Arg252Cys