Canonical Allele Identifier: CA4265683

Gene: EGFR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.55165296T>C , CM000669.2:g.55165296T>C	GRCh38
NC_000007.13:g.55232989T>C , CM000669.1:g.55232989T>C	GRCh37
NC_000007.12:g.55200483T>C	NCBI36
NG_007726.3:g.151265T>C , LRG_304:g.151265T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_005228.5:c.1739T>C MANE Select	NP_005219.2:p.Ile580Thr
ENST00000275493.7:c.1739T>C MANE Select	ENSP00000275493.2:p.Ile580Thr
NM_001346897.1:c.1604T>C	NP_001333826.1:p.Ile535Thr
NM_001346897.2:c.1604T>C	NP_001333826.1:p.Ile535Thr
NM_001346898.1:c.1739T>C	NP_001333827.1:p.Ile580Thr
NM_001346898.2:c.1739T>C	NP_001333827.1:p.Ile580Thr
NM_001346899.1:c.1604T>C	NP_001333828.1:p.Ile535Thr
NM_001346899.2:c.1604T>C	NP_001333828.1:p.Ile535Thr
NM_001346900.1:c.1580T>C	NP_001333829.1:p.Ile527Thr
NM_001346900.2:c.1580T>C	NP_001333829.1:p.Ile527Thr
NM_001346941.1:c.938T>C	NP_001333870.1:p.Ile313Thr
NM_001346941.2:c.938T>C	NP_001333870.1:p.Ile313Thr
NM_005228.3:c.1739T>C , LRG_304t1:c.1739T>C	NP_005219.2:p.Ile580Thr
NM_005228.4:c.1739T>C	NP_005219.2:p.Ile580Thr
NM_201282.1:c.1739T>C	NP_958439.1:p.Ile580Thr
NM_201282.2:c.1739T>C	NP_958439.1:p.Ile580Thr
NM_201284.1:c.1739T>C	NP_958441.1:p.Ile580Thr
NM_201284.2:c.1739T>C	NP_958441.1:p.Ile580Thr
ENST00000275493.6:c.1739T>C	ENSP00000275493.2:p.Ile580Thr
ENST00000342916.7:c.1739T>C	ENSP00000342376.3:p.Ile580Thr
ENST00000344576.6:c.1739T>C	ENSP00000345973.2:p.Ile580Thr
ENST00000344576.7:c.1739T>C	ENSP00000345973.2:p.Ile580Thr
ENST00000442591.5:c.1739T>C	ENSP00000410031.1:p.Ile580Thr
ENST00000450046.2:c.1580T>C	ENSP00000413354.2:p.Ile527Thr
ENST00000454757.6:c.1604T>C	ENSP00000395243.3:p.Ile535Thr
ENST00000455089.5:c.1604T>C	ENSP00000415559.1:p.Ile535Thr
ENST00000700145.1:c.88T>C