Canonical Allele Identifier: CA367578543

Gene: EGFR EGFR-AS1

Linked Data

• dbSNP Id: rs2128958253
• COSMIC: COSM133563
• MyVariant Identifiers: chr7:g.55248996T>G (hg19) ; chr7:g.55181303T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.55181303T>G , CM000669.2:g.55181303T>G	GRCh38
NC_000007.13:g.55248996T>G , CM000669.1:g.55248996T>G	GRCh37
NC_000007.12:g.55216490T>G	NCBI36
NG_007726.3:g.167272T>G , LRG_304:g.167272T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450046.2:c.2135T>G (EGFR)	ENSP00000413354.2:p.Val712Gly
ENST00000700145.1:c.643T>G (EGFR)
ENST00000275493.7:c.2294T>G (EGFR) MANE Select	ENSP00000275493.2:p.Val765Gly
ENST00000275493.6:c.2294T>G (EGFR)	ENSP00000275493.2:p.Val765Gly
ENST00000442591.5:c.*28+8375T>G (EGFR)	ENSP00000410031.1:n.*28+8375T>G
ENST00000454757.6:c.2159T>G (EGFR)	ENSP00000395243.3:p.Val720Gly
ENST00000455089.5:c.2159T>G (EGFR)	ENSP00000415559.1:p.Val720Gly
NM_005228.3:c.2294T>G , LRG_304t1:c.2294T>G (EGFR)	NP_005219.2:p.Val765Gly
NR_047551.1:n.1268A>C (EGFR-AS1)
NM_001346897.1:c.2159T>G (EGFR)	NP_001333826.1:p.Val720Gly
NM_001346898.1:c.2294T>G (EGFR)	NP_001333827.1:p.Val765Gly
NM_001346899.1:c.2159T>G (EGFR)	NP_001333828.1:p.Val720Gly
NM_001346900.1:c.2135T>G (EGFR)	NP_001333829.1:p.Val712Gly
NM_001346941.1:c.1493T>G (EGFR)	NP_001333870.1:p.Val498Gly
NM_005228.4:c.2294T>G (EGFR)	NP_005219.2:p.Val765Gly
NM_005228.5:c.2294T>G (EGFR) MANE Select	NP_005219.2:p.Val765Gly
NM_001346897.2:c.2159T>G (EGFR)	NP_001333826.1:p.Val720Gly
NM_001346898.2:c.2294T>G (EGFR)	NP_001333827.1:p.Val765Gly
NM_001346900.2:c.2135T>G (EGFR)	NP_001333829.1:p.Val712Gly
NM_001346941.2:c.1493T>G (EGFR)	NP_001333870.1:p.Val498Gly
NM_001346899.2:c.2159T>G (EGFR)	NP_001333828.1:p.Val720Gly