Canonical Allele Identifier: CA1708891203
Gene: EGFR HGNC NCBI

Linked Data

dbSNP Id: rs1793454526
gnomAD v3: 7-55125239-G-A
gnomAD v4: 7-55125239-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.55125239G>A , CM000669.2:g.55125239G>A GRCh38
NC_000007.13:g.55192932G>A , CM000669.1:g.55192932G>A GRCh37
NC_000007.12:g.55160426G>A NCBI36
NG_007726.3:g.111208G>A , LRG_304:g.111208G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000450046.2:c.-72+15281G>A ENSP00000413354.2:n.-72+15281G>A
ENST00000700144.1:n.279-17047G>A
ENST00000344576.7:c.89-17047G>A ENSP00000345973.2:n.89-17047G>A
ENST00000275493.7:c.89-17047G>A MANE Select ENSP00000275493.2:n.89-17047G>A
ENST00000275493.6:c.89-17047G>A ENSP00000275493.2:n.89-17047G>A
ENST00000342916.7:c.89-17047G>A ENSP00000342376.3:n.89-17047G>A
ENST00000344576.6:c.89-17047G>A ENSP00000345973.2:n.89-17047G>A
ENST00000420316.6:c.89-17047G>A ENSP00000413843.2:n.89-17047G>A
ENST00000442591.5:c.89-17047G>A ENSP00000410031.1:n.89-17047G>A
ENST00000450046.1:c.-72+15281G>A ENSP00000413354.1:n.-72+15281G>A
ENST00000454757.6:c.89-17047G>A ENSP00000395243.3:n.89-17047G>A
ENST00000455089.5:c.89-17047G>A ENSP00000415559.1:n.89-17047G>A
NM_005228.3:c.89-17047G>A , LRG_304t1:c.89-17047G>A NP_005219.2:n.89-17047G>A
NM_201282.1:c.89-17047G>A NP_958439.1:n.89-17047G>A
NM_201283.1:c.89-17047G>A NP_958440.1:n.89-17047G>A
NM_201284.1:c.89-17047G>A NP_958441.1:n.89-17047G>A
NM_001346897.1:c.89-17047G>A NP_001333826.1:n.89-17047G>A
NM_001346898.1:c.89-17047G>A NP_001333827.1:n.89-17047G>A
NM_001346899.1:c.89-17047G>A NP_001333828.1:n.89-17047G>A
NM_001346900.1:c.-72+15281G>A NP_001333829.1:n.-72+15281G>A
NM_001346941.1:c.89-30591G>A NP_001333870.1:n.89-30591G>A
NM_005228.4:c.89-17047G>A NP_005219.2:n.89-17047G>A
NM_005228.5:c.89-17047G>A MANE Select NP_005219.2:n.89-17047G>A
NM_001346897.2:c.89-17047G>A NP_001333826.1:n.89-17047G>A
NM_001346898.2:c.89-17047G>A NP_001333827.1:n.89-17047G>A
NM_001346900.2:c.-72+15281G>A NP_001333829.1:n.-72+15281G>A
NM_001346941.2:c.89-30591G>A NP_001333870.1:n.89-30591G>A
NM_201282.2:c.89-17047G>A NP_958439.1:n.89-17047G>A
NM_201284.2:c.89-17047G>A NP_958441.1:n.89-17047G>A
NM_001346899.2:c.89-17047G>A NP_001333828.1:n.89-17047G>A
NM_201283.2:c.89-17047G>A NP_958440.1:n.89-17047G>A