Canonical Allele Identifier: CA367583948

Gene: EGFR

Linked Data

• MyVariant Identifiers: chr7:g.55242418C>A (hg19) ; chr7:g.55174725C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.55174725C>A , CM000669.2:g.55174725C>A	GRCh38
NC_000007.13:g.55242418C>A , CM000669.1:g.55242418C>A	GRCh37
NC_000007.12:g.55209912C>A	NCBI36
NG_007726.3:g.160694C>A , LRG_304:g.160694C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000450046.2:c.2029C>A	ENSP00000413354.2:p.Leu677Ile
ENST00000700145.1:c.537C>A
ENST00000275493.7:c.2188C>A MANE Select	ENSP00000275493.2:p.Leu730Ile
ENST00000275493.6:c.2188C>A	ENSP00000275493.2:p.Leu730Ile
ENST00000442591.5:c.*28+1797C>A	ENSP00000410031.1:n.*28+1797C>A
ENST00000454757.6:c.2053C>A	ENSP00000395243.3:p.Leu685Ile
ENST00000455089.5:c.2053C>A	ENSP00000415559.1:p.Leu685Ile
NM_005228.3:c.2188C>A , LRG_304t1:c.2188C>A	NP_005219.2:p.Leu730Ile
NM_001346897.1:c.2053C>A	NP_001333826.1:p.Leu685Ile
NM_001346898.1:c.2188C>A	NP_001333827.1:p.Leu730Ile
NM_001346899.1:c.2053C>A	NP_001333828.1:p.Leu685Ile
NM_001346900.1:c.2029C>A	NP_001333829.1:p.Leu677Ile
NM_001346941.1:c.1387C>A	NP_001333870.1:p.Leu463Ile
NM_005228.4:c.2188C>A	NP_005219.2:p.Leu730Ile
NM_005228.5:c.2188C>A MANE Select	NP_005219.2:p.Leu730Ile
NM_001346897.2:c.2053C>A	NP_001333826.1:p.Leu685Ile
NM_001346898.2:c.2188C>A	NP_001333827.1:p.Leu730Ile
NM_001346900.2:c.2029C>A	NP_001333829.1:p.Leu677Ile
NM_001346941.2:c.1387C>A	NP_001333870.1:p.Leu463Ile
NM_001346899.2:c.2053C>A	NP_001333828.1:p.Leu685Ile