Canonical Allele Identifier: CA4265816
Gene: EGFR HGNC NCBI
ClinVar RCV:
ClinVar Variation:
gnomAD v4:
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.55170486G>T , CM000669.2:g.55170486G>T GRCh38
NC_000007.13:g.55238179G>T , CM000669.1:g.55238179G>T GRCh37
NC_000007.12:g.55205673G>T NCBI36
NG_007726.3:g.156455G>T , LRG_304:g.156455G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000450046.2:c.1722-689G>T ENSP00000413354.2:n.1722-689G>T
ENST00000700145.1:c.230-689G>T
ENST00000344576.7:c.2060G>T ENSP00000345973.2:p.Ser687Ile
ENST00000275493.7:c.1881-689G>T MANE Select ENSP00000275493.2:n.1881-689G>T
ENST00000275493.6:c.1881-689G>T ENSP00000275493.2:n.1881-689G>T
ENST00000344576.6:c.2060G>T ENSP00000345973.2:p.Ser687Ile
ENST00000442591.5:c.1881-689G>T ENSP00000410031.1:n.1881-689G>T
ENST00000454757.6:c.1746-689G>T ENSP00000395243.3:n.1746-689G>T
ENST00000455089.5:c.1746-689G>T ENSP00000415559.1:n.1746-689G>T
NM_005228.3:c.1881-689G>T , LRG_304t1:c.1881-689G>T NP_005219.2:n.1881-689G>T
NM_201284.1:c.2060G>T NP_958441.1:p.Ser687Ile
NM_001346897.1:c.1746-689G>T NP_001333826.1:n.1746-689G>T
NM_001346898.1:c.1881-689G>T NP_001333827.1:n.1881-689G>T
NM_001346899.1:c.1746-689G>T NP_001333828.1:n.1746-689G>T
NM_001346900.1:c.1722-689G>T NP_001333829.1:n.1722-689G>T
NM_001346941.1:c.1080-689G>T NP_001333870.1:n.1080-689G>T
NM_005228.4:c.1881-689G>T NP_005219.2:n.1881-689G>T
NM_005228.5:c.1881-689G>T MANE Select NP_005219.2:n.1881-689G>T
NM_001346897.2:c.1746-689G>T NP_001333826.1:n.1746-689G>T
NM_001346898.2:c.1881-689G>T NP_001333827.1:n.1881-689G>T
NM_001346900.2:c.1722-689G>T NP_001333829.1:n.1722-689G>T
NM_001346941.2:c.1080-689G>T NP_001333870.1:n.1080-689G>T
NM_201284.2:c.2060G>T NP_958441.1:p.Ser687Ile
NM_001346899.2:c.1746-689G>T NP_001333828.1:n.1746-689G>T