Canonical Allele Identifier: CA4266388

Gene: EGFR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.55205352C>T , CM000669.2:g.55205352C>T	GRCh38
NC_000007.13:g.55273045C>T , CM000669.1:g.55273045C>T	GRCh37
NC_000007.12:g.55240539C>T	NCBI36
NG_007726.3:g.191321C>T , LRG_304:g.191321C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_005228.5:c.3368C>T MANE Select	NP_005219.2:p.Pro1123Leu
ENST00000275493.7:c.3368C>T MANE Select	ENSP00000275493.2:p.Pro1123Leu
NM_001346899.1:c.3233C>T	NP_001333828.1:p.Pro1078Leu
NM_001346899.2:c.3233C>T	NP_001333828.1:p.Pro1078Leu
NM_001346900.1:c.3209C>T	NP_001333829.1:p.Pro1070Leu
NM_001346900.2:c.3209C>T	NP_001333829.1:p.Pro1070Leu
NM_001346941.1:c.2567C>T	NP_001333870.1:p.Pro856Leu
NM_001346941.2:c.2567C>T	NP_001333870.1:p.Pro856Leu
NM_005228.3:c.3368C>T , LRG_304t1:c.3368C>T	NP_005219.2:p.Pro1123Leu
NM_005228.4:c.3368C>T	NP_005219.2:p.Pro1123Leu
ENST00000275493.6:c.3368C>T	ENSP00000275493.2:p.Pro1123Leu
ENST00000442591.5:c.*28+32424C>T	ENSP00000410031.1:n.*28+32424C>T
ENST00000450046.2:c.3209C>T	ENSP00000413354.2:p.Pro1070Leu
ENST00000454757.6:c.3233C>T	ENSP00000395243.3:p.Pro1078Leu
ENST00000700145.1:c.905C>T
ENST00000700146.1:n.1112C>T
ENST00000700147.1:n.1037C>T