Canonical Allele Identifier: CA158930241
Gene: EGFR HGNC NCBI
EGFR-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs904621091
gnomAD v3: 7-55184082-G-A
gnomAD v4: 7-55184082-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.55184082G>A , CM000669.2:g.55184082G>A GRCh38
NC_000007.13:g.55251775G>A , CM000669.1:g.55251775G>A GRCh37
NC_000007.12:g.55219269G>A NCBI36
NG_007726.3:g.170051G>A , LRG_304:g.170051G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000450046.2:c.2310+2604G>A (EGFR) ENSP00000413354.2:n.2310+2604G>A
ENST00000700145.1:c.818+2604G>A (EGFR)
ENST00000275493.7:c.2469+2604G>A (EGFR) MANE Select ENSP00000275493.2:n.2469+2604G>A
ENST00000275493.6:c.2469+2604G>A (EGFR) ENSP00000275493.2:n.2469+2604G>A
ENST00000442591.5:c.*28+11154G>A (EGFR) ENSP00000410031.1:n.*28+11154G>A
ENST00000454757.6:c.2334+2604G>A (EGFR) ENSP00000395243.3:n.2334+2604G>A
ENST00000455089.5:c.2334+2604G>A (EGFR) ENSP00000415559.1:n.2334+2604G>A
NM_005228.3:c.2469+2604G>A , LRG_304t1:c.2469+2604G>A (EGFR) NP_005219.2:n.2469+2604G>A
NR_047551.1:n.94-1605C>T (EGFR-AS1)
NM_001346897.1:c.2334+2604G>A (EGFR) NP_001333826.1:n.2334+2604G>A
NM_001346898.1:c.2469+2604G>A (EGFR) NP_001333827.1:n.2469+2604G>A
NM_001346899.1:c.2334+2604G>A (EGFR) NP_001333828.1:n.2334+2604G>A
NM_001346900.1:c.2310+2604G>A (EGFR) NP_001333829.1:n.2310+2604G>A
NM_001346941.1:c.1668+2604G>A (EGFR) NP_001333870.1:n.1668+2604G>A
NM_005228.4:c.2469+2604G>A (EGFR) NP_005219.2:n.2469+2604G>A
NM_005228.5:c.2469+2604G>A (EGFR) MANE Select NP_005219.2:n.2469+2604G>A
NM_001346897.2:c.2334+2604G>A (EGFR) NP_001333826.1:n.2334+2604G>A
NM_001346898.2:c.2469+2604G>A (EGFR) NP_001333827.1:n.2469+2604G>A
NM_001346900.2:c.2310+2604G>A (EGFR) NP_001333829.1:n.2310+2604G>A
NM_001346941.2:c.1668+2604G>A (EGFR) NP_001333870.1:n.1668+2604G>A
NM_001346899.2:c.2334+2604G>A (EGFR) NP_001333828.1:n.2334+2604G>A