Canonical Allele Identifier: CA367580228

Gene: EGFR

Linked Data

• dbSNP Id: rs2128964561
• MyVariant Identifiers: chr7:g.55259493G>C (hg19) ; chr7:g.55191800G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.55191800G>C , CM000669.2:g.55191800G>C	GRCh38
NC_000007.13:g.55259493G>C , CM000669.1:g.55259493G>C	GRCh37
NC_000007.12:g.55226987G>C	NCBI36
NG_007726.3:g.177769G>C , LRG_304:g.177769G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450046.2:c.2392G>C	ENSP00000413354.2:p.Val798Leu
ENST00000700145.1:c.899+1G>C
ENST00000275493.7:c.2551G>C MANE Select	ENSP00000275493.2:p.Val851Leu
ENST00000275493.6:c.2551G>C	ENSP00000275493.2:p.Val851Leu
ENST00000442591.5:c.*28+18872G>C	ENSP00000410031.1:n.*28+18872G>C
ENST00000454757.6:c.2416G>C	ENSP00000395243.3:p.Val806Leu
ENST00000455089.5:c.2416G>C	ENSP00000415559.1:p.Val806Leu
NM_005228.3:c.2551G>C , LRG_304t1:c.2551G>C	NP_005219.2:p.Val851Leu
NM_001346897.1:c.2416G>C	NP_001333826.1:p.Val806Leu
NM_001346898.1:c.2551G>C	NP_001333827.1:p.Val851Leu
NM_001346899.1:c.2416G>C	NP_001333828.1:p.Val806Leu
NM_001346900.1:c.2392G>C	NP_001333829.1:p.Val798Leu
NM_001346941.1:c.1750G>C	NP_001333870.1:p.Val584Leu
NM_005228.4:c.2551G>C	NP_005219.2:p.Val851Leu
NM_005228.5:c.2551G>C MANE Select	NP_005219.2:p.Val851Leu
NM_001346897.2:c.2416G>C	NP_001333826.1:p.Val806Leu
NM_001346898.2:c.2551G>C	NP_001333827.1:p.Val851Leu
NM_001346900.2:c.2392G>C	NP_001333829.1:p.Val798Leu
NM_001346941.2:c.1750G>C	NP_001333870.1:p.Val584Leu
NM_001346899.2:c.2416G>C	NP_001333828.1:p.Val806Leu