gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.6031302 (MID)
Genomes Max Group AF
0.59134534 (NFE)
Exomes Max Group AF
0.49276096 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.55182437G>A , CM000669.2:g.55182437G>A | GRCh38 |
| NC_000007.13:g.55250130G>A , CM000669.1:g.55250130G>A | GRCh37 |
| NC_000007.12:g.55217624G>A | NCBI36 |
| NG_007726.3:g.168406G>A , LRG_304:g.168406G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000450046.2:c.2310+959G>A (EGFR) | ENSP00000413354.2:n.2310+959G>A | |
| ENST00000700145.1:c.818+959G>A (EGFR) | ||
| ENST00000275493.7:c.2469+959G>A (EGFR) MANE Select | ENSP00000275493.2:n.2469+959G>A | |
| ENST00000275493.6:c.2469+959G>A (EGFR) | ENSP00000275493.2:n.2469+959G>A | |
| ENST00000442591.5:c.*28+9509G>A (EGFR) | ENSP00000410031.1:n.*28+9509G>A | |
| ENST00000454757.6:c.2334+959G>A (EGFR) | ENSP00000395243.3:n.2334+959G>A | |
| ENST00000455089.5:c.2334+959G>A (EGFR) | ENSP00000415559.1:n.2334+959G>A | |
| NM_005228.3:c.2469+959G>A , LRG_304t1:c.2469+959G>A (EGFR) | NP_005219.2:n.2469+959G>A | |
| NR_047551.1:n.134C>T (EGFR-AS1) | ||
| NM_001346897.1:c.2334+959G>A (EGFR) | NP_001333826.1:n.2334+959G>A | |
| NM_001346898.1:c.2469+959G>A (EGFR) | NP_001333827.1:n.2469+959G>A | |
| NM_001346899.1:c.2334+959G>A (EGFR) | NP_001333828.1:n.2334+959G>A | |
| NM_001346900.1:c.2310+959G>A (EGFR) | NP_001333829.1:n.2310+959G>A | |
| NM_001346941.1:c.1668+959G>A (EGFR) | NP_001333870.1:n.1668+959G>A | |
| NM_005228.4:c.2469+959G>A (EGFR) | NP_005219.2:n.2469+959G>A | |
| NM_005228.5:c.2469+959G>A (EGFR) MANE Select | NP_005219.2:n.2469+959G>A | |
| NM_001346897.2:c.2334+959G>A (EGFR) | NP_001333826.1:n.2334+959G>A | |
| NM_001346898.2:c.2469+959G>A (EGFR) | NP_001333827.1:n.2469+959G>A | |
| NM_001346900.2:c.2310+959G>A (EGFR) | NP_001333829.1:n.2310+959G>A | |
| NM_001346941.2:c.1668+959G>A (EGFR) | NP_001333870.1:n.1668+959G>A | |
| NM_001346899.2:c.2334+959G>A (EGFR) | NP_001333828.1:n.2334+959G>A |