Canonical Allele Identifier: CA839804905
Gene: EGFR HGNC NCBI
EGFR-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs1449585169
gnomAD v3: 7-55183940-G-T
gnomAD v4: 7-55183940-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.55183940G>T , CM000669.2:g.55183940G>T GRCh38
NC_000007.13:g.55251633G>T , CM000669.1:g.55251633G>T GRCh37
NC_000007.12:g.55219127G>T NCBI36
NG_007726.3:g.169909G>T , LRG_304:g.169909G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000450046.2:c.2310+2462G>T (EGFR) ENSP00000413354.2:n.2310+2462G>T
ENST00000700145.1:c.818+2462G>T (EGFR)
ENST00000275493.7:c.2469+2462G>T (EGFR) MANE Select ENSP00000275493.2:n.2469+2462G>T
ENST00000275493.6:c.2469+2462G>T (EGFR) ENSP00000275493.2:n.2469+2462G>T
ENST00000442591.5:c.*28+11012G>T (EGFR) ENSP00000410031.1:n.*28+11012G>T
ENST00000454757.6:c.2334+2462G>T (EGFR) ENSP00000395243.3:n.2334+2462G>T
ENST00000455089.5:c.2334+2462G>T (EGFR) ENSP00000415559.1:n.2334+2462G>T
NM_005228.3:c.2469+2462G>T , LRG_304t1:c.2469+2462G>T (EGFR) NP_005219.2:n.2469+2462G>T
NR_047551.1:n.94-1463C>A (EGFR-AS1)
NM_001346897.1:c.2334+2462G>T (EGFR) NP_001333826.1:n.2334+2462G>T
NM_001346898.1:c.2469+2462G>T (EGFR) NP_001333827.1:n.2469+2462G>T
NM_001346899.1:c.2334+2462G>T (EGFR) NP_001333828.1:n.2334+2462G>T
NM_001346900.1:c.2310+2462G>T (EGFR) NP_001333829.1:n.2310+2462G>T
NM_001346941.1:c.1668+2462G>T (EGFR) NP_001333870.1:n.1668+2462G>T
NM_005228.4:c.2469+2462G>T (EGFR) NP_005219.2:n.2469+2462G>T
NM_005228.5:c.2469+2462G>T (EGFR) MANE Select NP_005219.2:n.2469+2462G>T
NM_001346897.2:c.2334+2462G>T (EGFR) NP_001333826.1:n.2334+2462G>T
NM_001346898.2:c.2469+2462G>T (EGFR) NP_001333827.1:n.2469+2462G>T
NM_001346900.2:c.2310+2462G>T (EGFR) NP_001333829.1:n.2310+2462G>T
NM_001346941.2:c.1668+2462G>T (EGFR) NP_001333870.1:n.1668+2462G>T
NM_001346899.2:c.2334+2462G>T (EGFR) NP_001333828.1:n.2334+2462G>T