Canonical Allele Identifier: CA367578811

Gene: EGFR EGFR-AS1

Linked Data

• dbSNP Id: rs2128958582
• COSMIC: COSM14069
• MyVariant Identifiers: chr7:g.55249050C>T (hg19) ; chr7:g.55181357C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.55181357C>T , CM000669.2:g.55181357C>T	GRCh38
NC_000007.13:g.55249050C>T , CM000669.1:g.55249050C>T	GRCh37
NC_000007.12:g.55216544C>T	NCBI36
NG_007726.3:g.167326C>T , LRG_304:g.167326C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000450046.2:c.2189C>T (EGFR)	ENSP00000413354.2:p.Thr730Ile
ENST00000700145.1:c.697C>T (EGFR)
ENST00000275493.7:c.2348C>T (EGFR) MANE Select	ENSP00000275493.2:p.Thr783Ile
ENST00000275493.6:c.2348C>T (EGFR)	ENSP00000275493.2:p.Thr783Ile
ENST00000442591.5:c.*28+8429C>T (EGFR)	ENSP00000410031.1:n.*28+8429C>T
ENST00000454757.6:c.2213C>T (EGFR)	ENSP00000395243.3:p.Thr738Ile
ENST00000455089.5:c.2213C>T (EGFR)	ENSP00000415559.1:p.Thr738Ile
NM_005228.3:c.2348C>T , LRG_304t1:c.2348C>T (EGFR)	NP_005219.2:p.Thr783Ile
NR_047551.1:n.1214G>A (EGFR-AS1)
NM_001346897.1:c.2213C>T (EGFR)	NP_001333826.1:p.Thr738Ile
NM_001346898.1:c.2348C>T (EGFR)	NP_001333827.1:p.Thr783Ile
NM_001346899.1:c.2213C>T (EGFR)	NP_001333828.1:p.Thr738Ile
NM_001346900.1:c.2189C>T (EGFR)	NP_001333829.1:p.Thr730Ile
NM_001346941.1:c.1547C>T (EGFR)	NP_001333870.1:p.Thr516Ile
NM_005228.4:c.2348C>T (EGFR)	NP_005219.2:p.Thr783Ile
NM_005228.5:c.2348C>T (EGFR) MANE Select	NP_005219.2:p.Thr783Ile
NM_001346897.2:c.2213C>T (EGFR)	NP_001333826.1:p.Thr738Ile
NM_001346898.2:c.2348C>T (EGFR)	NP_001333827.1:p.Thr783Ile
NM_001346900.2:c.2189C>T (EGFR)	NP_001333829.1:p.Thr730Ile
NM_001346941.2:c.1547C>T (EGFR)	NP_001333870.1:p.Thr516Ile
NM_001346899.2:c.2213C>T (EGFR)	NP_001333828.1:p.Thr738Ile