Canonical Allele Identifier: CA367576824
Gene: EGFR HGNC NCBI

Linked Data

dbSNP Id: rs773349388
gnomAD v4: 7-55151313-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.55151313C>A , CM000669.2:g.55151313C>A GRCh38
NC_000007.13:g.55219006C>A , CM000669.1:g.55219006C>A GRCh37
NC_000007.12:g.55186500C>A NCBI36
NG_007726.3:g.137282C>A , LRG_304:g.137282C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000450046.2:c.420C>A ENSP00000413354.2:p.Ser140Arg
ENST00000700144.1:n.769C>A
ENST00000344576.7:c.579C>A ENSP00000345973.2:p.Ser193Arg
ENST00000275493.7:c.579C>A MANE Select ENSP00000275493.2:p.Ser193Arg
ENST00000275493.6:c.579C>A ENSP00000275493.2:p.Ser193Arg
ENST00000342916.7:c.579C>A ENSP00000342376.3:p.Ser193Arg
ENST00000344576.6:c.579C>A ENSP00000345973.2:p.Ser193Arg
ENST00000420316.6:c.579C>A ENSP00000413843.2:p.Ser193Arg
ENST00000442591.5:c.579C>A ENSP00000410031.1:p.Ser193Arg
ENST00000454757.6:c.444C>A ENSP00000395243.3:p.Ser148Arg
ENST00000455089.5:c.444C>A ENSP00000415559.1:p.Ser148Arg
NM_005228.3:c.579C>A , LRG_304t1:c.579C>A NP_005219.2:p.Ser193Arg
NM_201282.1:c.579C>A NP_958439.1:p.Ser193Arg
NM_201283.1:c.579C>A NP_958440.1:p.Ser193Arg
NM_201284.1:c.579C>A NP_958441.1:p.Ser193Arg
NM_001346897.1:c.444C>A NP_001333826.1:p.Ser148Arg
NM_001346898.1:c.579C>A NP_001333827.1:p.Ser193Arg
NM_001346899.1:c.444C>A NP_001333828.1:p.Ser148Arg
NM_001346900.1:c.420C>A NP_001333829.1:p.Ser140Arg
NM_001346941.1:c.89-4517C>A NP_001333870.1:n.89-4517C>A
NM_005228.4:c.579C>A NP_005219.2:p.Ser193Arg
NM_005228.5:c.579C>A MANE Select NP_005219.2:p.Ser193Arg
NM_001346897.2:c.444C>A NP_001333826.1:p.Ser148Arg
NM_001346898.2:c.579C>A NP_001333827.1:p.Ser193Arg
NM_001346900.2:c.420C>A NP_001333829.1:p.Ser140Arg
NM_001346941.2:c.89-4517C>A NP_001333870.1:n.89-4517C>A
NM_201282.2:c.579C>A NP_958439.1:p.Ser193Arg
NM_201284.2:c.579C>A NP_958441.1:p.Ser193Arg
NM_001346899.2:c.444C>A NP_001333828.1:p.Ser148Arg
NM_201283.2:c.579C>A NP_958440.1:p.Ser193Arg