Canonical Allele Identifier: CA367578271
Community Standard Title: NM_005228.5(EGFR):c.1045C>T (p.Leu349Phe)
Gene: EGFR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.55156571C>T , CM000669.2:g.55156571C>T GRCh38
NC_000007.13:g.55224264C>T , CM000669.1:g.55224264C>T GRCh37
NC_000007.12:g.55191758C>T NCBI36
NG_007726.3:g.142540C>T , LRG_304:g.142540C>T

Transcript Alleles

HGVS Amino-acid Change
NM_005228.5:c.1045C>T MANE Select NP_005219.2:p.Leu349Phe
ENST00000275493.7:c.1045C>T MANE Select ENSP00000275493.2:p.Leu349Phe
NM_001346897.1:c.910C>T NP_001333826.1:p.Leu304Phe
NM_001346897.2:c.910C>T NP_001333826.1:p.Leu304Phe
NM_001346898.1:c.1045C>T NP_001333827.1:p.Leu349Phe
NM_001346898.2:c.1045C>T NP_001333827.1:p.Leu349Phe
NM_001346899.1:c.910C>T NP_001333828.1:p.Leu304Phe
NM_001346899.2:c.910C>T NP_001333828.1:p.Leu304Phe
NM_001346900.1:c.886C>T NP_001333829.1:p.Leu296Phe
NM_001346900.2:c.886C>T NP_001333829.1:p.Leu296Phe
NM_001346941.1:c.244C>T NP_001333870.1:p.Leu82Phe
NM_001346941.2:c.244C>T NP_001333870.1:p.Leu82Phe
NM_005228.3:c.1045C>T , LRG_304t1:c.1045C>T NP_005219.2:p.Leu349Phe
NM_005228.4:c.1045C>T NP_005219.2:p.Leu349Phe
NM_201282.1:c.1045C>T NP_958439.1:p.Leu349Phe
NM_201282.2:c.1045C>T NP_958439.1:p.Leu349Phe
NM_201283.1:c.1045C>T NP_958440.1:p.Leu349Phe
NM_201283.2:c.1045C>T NP_958440.1:p.Leu349Phe
NM_201284.1:c.1045C>T NP_958441.1:p.Leu349Phe
NM_201284.2:c.1045C>T NP_958441.1:p.Leu349Phe
ENST00000275493.6:c.1045C>T ENSP00000275493.2:p.Leu349Phe
ENST00000342916.7:c.1045C>T ENSP00000342376.3:p.Leu349Phe
ENST00000344576.6:c.1045C>T ENSP00000345973.2:p.Leu349Phe
ENST00000344576.7:c.1045C>T ENSP00000345973.2:p.Leu349Phe
ENST00000420316.6:c.1045C>T ENSP00000413843.2:p.Leu349Phe
ENST00000442591.5:c.1045C>T ENSP00000410031.1:p.Leu349Phe
ENST00000450046.2:c.886C>T ENSP00000413354.2:p.Leu296Phe
ENST00000454757.6:c.910C>T ENSP00000395243.3:p.Leu304Phe
ENST00000455089.5:c.910C>T ENSP00000415559.1:p.Leu304Phe
ENST00000700144.1:n.1821C>T