Canonical Allele Identifier: CA151166

Gene: EGFR EGFR-AS1

Linked Data

• ClinVar Variation Id: 126515
• ClinVar RCV Id: RCV000114404 ; RCV000150627
• dbSNP Id: rs483352806
• gnomAD v2: 7-55249029-G-A
• gnomAD v3: 7-55181336-G-A
• gnomAD v4: 7-55181336-G-A
• COSMIC: COSM22940
• MyVariant Identifiers: chr7:g.55249029G>A (hg19) ; chr7:g.55181336G>A (hg38)
• PubMed: PMID:24712396

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.55181336G>A , CM000669.2:g.55181336G>A	GRCh38
NC_000007.13:g.55249029G>A , CM000669.1:g.55249029G>A	GRCh37
NC_000007.12:g.55216523G>A	NCBI36
NG_007726.3:g.167305G>A , LRG_304:g.167305G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000450046.2:c.2168G>A (EGFR)	ENSP00000413354.2:p.Arg723His
ENST00000700145.1:c.676G>A (EGFR)
ENST00000275493.7:c.2327G>A (EGFR) MANE Select	ENSP00000275493.2:p.Arg776His
ENST00000275493.6:c.2327G>A (EGFR)	ENSP00000275493.2:p.Arg776His
ENST00000442591.5:c.*28+8408G>A (EGFR)	ENSP00000410031.1:n.*28+8408G>A
ENST00000454757.6:c.2192G>A (EGFR)	ENSP00000395243.3:p.Arg731His
ENST00000455089.5:c.2192G>A (EGFR)	ENSP00000415559.1:p.Arg731His
NM_005228.3:c.2327G>A , LRG_304t1:c.2327G>A (EGFR)	NP_005219.2:p.Arg776His
NR_047551.1:n.1235C>T (EGFR-AS1)
NM_001346897.1:c.2192G>A (EGFR)	NP_001333826.1:p.Arg731His
NM_001346898.1:c.2327G>A (EGFR)	NP_001333827.1:p.Arg776His
NM_001346899.1:c.2192G>A (EGFR)	NP_001333828.1:p.Arg731His
NM_001346900.1:c.2168G>A (EGFR)	NP_001333829.1:p.Arg723His
NM_001346941.1:c.1526G>A (EGFR)	NP_001333870.1:p.Arg509His
NM_005228.4:c.2327G>A (EGFR)	NP_005219.2:p.Arg776His
NM_005228.5:c.2327G>A (EGFR) MANE Select	NP_005219.2:p.Arg776His
NM_001346897.2:c.2192G>A (EGFR)	NP_001333826.1:p.Arg731His
NM_001346898.2:c.2327G>A (EGFR)	NP_001333827.1:p.Arg776His
NM_001346900.2:c.2168G>A (EGFR)	NP_001333829.1:p.Arg723His
NM_001346941.2:c.1526G>A (EGFR)	NP_001333870.1:p.Arg509His
NM_001346899.2:c.2192G>A (EGFR)	NP_001333828.1:p.Arg731His