Canonical Allele Identifier: CA574329526
Gene: EGFR HGNC NCBI

Linked Data

gnomAD v2: 7-55154194-A-G
gnomAD v3: 7-55086501-A-G
gnomAD v4: 7-55086501-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.55086501A>G , CM000669.2:g.55086501A>G GRCh38
NC_000007.13:g.55154194A>G , CM000669.1:g.55154194A>G GRCh37
NC_000007.12:g.55121688A>G NCBI36
NG_007726.3:g.72470A>G , LRG_304:g.72470A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000700144.1:n.279-55785A>G
ENST00000344576.7:c.89-55785A>G ENSP00000345973.2:n.89-55785A>G
ENST00000275493.7:c.89-55785A>G MANE Select ENSP00000275493.2:n.89-55785A>G
ENST00000275493.6:c.89-55785A>G ENSP00000275493.2:n.89-55785A>G
ENST00000342916.7:c.89-55785A>G ENSP00000342376.3:n.89-55785A>G
ENST00000344576.6:c.89-55785A>G ENSP00000345973.2:n.89-55785A>G
ENST00000420316.6:c.89-55785A>G ENSP00000413843.2:n.89-55785A>G
ENST00000442591.5:c.89-55785A>G ENSP00000410031.1:n.89-55785A>G
ENST00000454757.6:c.89-55785A>G ENSP00000395243.3:n.89-55785A>G
ENST00000455089.5:c.89-55785A>G ENSP00000415559.1:n.89-55785A>G
ENST00000463948.1:n.216-32555A>G
NM_005228.3:c.89-55785A>G , LRG_304t1:c.89-55785A>G NP_005219.2:n.89-55785A>G
NM_201282.1:c.89-55785A>G NP_958439.1:n.89-55785A>G
NM_201283.1:c.89-55785A>G NP_958440.1:n.89-55785A>G
NM_201284.1:c.89-55785A>G NP_958441.1:n.89-55785A>G
NM_001346897.1:c.89-55785A>G NP_001333826.1:n.89-55785A>G
NM_001346898.1:c.89-55785A>G NP_001333827.1:n.89-55785A>G
NM_001346899.1:c.89-55785A>G NP_001333828.1:n.89-55785A>G
NM_001346941.1:c.88+67136A>G NP_001333870.1:n.88+67136A>G
NM_005228.4:c.89-55785A>G NP_005219.2:n.89-55785A>G
NM_005228.5:c.89-55785A>G MANE Select NP_005219.2:n.89-55785A>G
NM_001346897.2:c.89-55785A>G NP_001333826.1:n.89-55785A>G
NM_001346898.2:c.89-55785A>G NP_001333827.1:n.89-55785A>G
NM_001346941.2:c.88+67136A>G NP_001333870.1:n.88+67136A>G
NM_201282.2:c.89-55785A>G NP_958439.1:n.89-55785A>G
NM_201284.2:c.89-55785A>G NP_958441.1:n.89-55785A>G
NM_001346899.2:c.89-55785A>G NP_001333828.1:n.89-55785A>G
NM_201283.2:c.89-55785A>G NP_958440.1:n.89-55785A>G