Canonical Allele Identifier: CA367582649

Gene: EGFR

Linked Data

• dbSNP Id: rs2128971705
• MyVariant Identifiers: chr7:g.55269006C>A (hg19) ; chr7:g.55201313C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.55201313C>A , CM000669.2:g.55201313C>A	GRCh38
NC_000007.13:g.55269006C>A , CM000669.1:g.55269006C>A	GRCh37
NC_000007.12:g.55236500C>A	NCBI36
NG_007726.3:g.187282C>A , LRG_304:g.187282C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450046.2:c.2913C>A	ENSP00000413354.2:p.Phe971Leu
ENST00000700145.1:c.900-4034C>A
ENST00000700146.1:n.816C>A
ENST00000700147.1:n.741C>A
ENST00000275493.7:c.3072C>A MANE Select	ENSP00000275493.2:p.Phe1024Leu
ENST00000275493.6:c.3072C>A	ENSP00000275493.2:p.Phe1024Leu
ENST00000442591.5:c.*28+28385C>A	ENSP00000410031.1:n.*28+28385C>A
ENST00000454757.6:c.2937C>A	ENSP00000395243.3:p.Phe979Leu
ENST00000455089.5:c.2937C>A	ENSP00000415559.1:p.Phe979Leu
NM_005228.3:c.3072C>A , LRG_304t1:c.3072C>A	NP_005219.2:p.Phe1024Leu
NM_001346897.1:c.2937C>A	NP_001333826.1:p.Phe979Leu
NM_001346898.1:c.3072C>A	NP_001333827.1:p.Phe1024Leu
NM_001346899.1:c.2937C>A	NP_001333828.1:p.Phe979Leu
NM_001346900.1:c.2913C>A	NP_001333829.1:p.Phe971Leu
NM_001346941.1:c.2271C>A	NP_001333870.1:p.Phe757Leu
NM_005228.4:c.3072C>A	NP_005219.2:p.Phe1024Leu
NM_005228.5:c.3072C>A MANE Select	NP_005219.2:p.Phe1024Leu
NM_001346897.2:c.2937C>A	NP_001333826.1:p.Phe979Leu
NM_001346898.2:c.3072C>A	NP_001333827.1:p.Phe1024Leu
NM_001346900.2:c.2913C>A	NP_001333829.1:p.Phe971Leu
NM_001346941.2:c.2271C>A	NP_001333870.1:p.Phe757Leu
NM_001346899.2:c.2937C>A	NP_001333828.1:p.Phe979Leu