Canonical Allele Identifier: CA367577875
Gene: EGFR HGNC NCBI

Linked Data

ClinVar Variation Id: 1513735
ClinVar RCV Id: RCV002026318
dbSNP Id: rs2128935166

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.55154143A>C , CM000669.2:g.55154143A>C GRCh38
NC_000007.13:g.55221836A>C , CM000669.1:g.55221836A>C GRCh37
NC_000007.12:g.55189330A>C NCBI36
NG_007726.3:g.140112A>C , LRG_304:g.140112A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000450046.2:c.721A>C ENSP00000413354.2:p.Lys241Gln
ENST00000700144.1:n.1070A>C
ENST00000344576.7:c.880A>C ENSP00000345973.2:p.Lys294Gln
ENST00000275493.7:c.880A>C MANE Select ENSP00000275493.2:p.Lys294Gln
ENST00000275493.6:c.880A>C ENSP00000275493.2:p.Lys294Gln
ENST00000342916.7:c.880A>C ENSP00000342376.3:p.Lys294Gln
ENST00000344576.6:c.880A>C ENSP00000345973.2:p.Lys294Gln
ENST00000420316.6:c.880A>C ENSP00000413843.2:p.Lys294Gln
ENST00000442591.5:c.880A>C ENSP00000410031.1:p.Lys294Gln
ENST00000454757.6:c.745A>C ENSP00000395243.3:p.Lys249Gln
ENST00000455089.5:c.745A>C ENSP00000415559.1:p.Lys249Gln
NM_005228.3:c.880A>C , LRG_304t1:c.880A>C NP_005219.2:p.Lys294Gln
NM_201282.1:c.880A>C NP_958439.1:p.Lys294Gln
NM_201283.1:c.880A>C NP_958440.1:p.Lys294Gln
NM_201284.1:c.880A>C NP_958441.1:p.Lys294Gln
NM_001346897.1:c.745A>C NP_001333826.1:p.Lys249Gln
NM_001346898.1:c.880A>C NP_001333827.1:p.Lys294Gln
NM_001346899.1:c.745A>C NP_001333828.1:p.Lys249Gln
NM_001346900.1:c.721A>C NP_001333829.1:p.Lys241Gln
NM_001346941.1:c.89-1687A>C NP_001333870.1:n.89-1687A>C
NM_005228.4:c.880A>C NP_005219.2:p.Lys294Gln
NM_005228.5:c.880A>C MANE Select NP_005219.2:p.Lys294Gln
NM_001346897.2:c.745A>C NP_001333826.1:p.Lys249Gln
NM_001346898.2:c.880A>C NP_001333827.1:p.Lys294Gln
NM_001346900.2:c.721A>C NP_001333829.1:p.Lys241Gln
NM_001346941.2:c.89-1687A>C NP_001333870.1:n.89-1687A>C
NM_201282.2:c.880A>C NP_958439.1:p.Lys294Gln
NM_201284.2:c.880A>C NP_958441.1:p.Lys294Gln
NM_001346899.2:c.745A>C NP_001333828.1:p.Lys249Gln
NM_201283.2:c.880A>C NP_958440.1:p.Lys294Gln