Canonical Allele Identifier: CA367578272
Community Standard Title: NM_005228.5(EGFR):c.1046T>A (p.Leu349His)
Gene: EGFR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.55156572T>A , CM000669.2:g.55156572T>A GRCh38
NC_000007.13:g.55224265T>A , CM000669.1:g.55224265T>A GRCh37
NC_000007.12:g.55191759T>A NCBI36
NG_007726.3:g.142541T>A , LRG_304:g.142541T>A

Transcript Alleles

HGVS Amino-acid Change
NM_005228.5:c.1046T>A MANE Select NP_005219.2:p.Leu349His
ENST00000275493.7:c.1046T>A MANE Select ENSP00000275493.2:p.Leu349His
NM_001346897.1:c.911T>A NP_001333826.1:p.Leu304His
NM_001346897.2:c.911T>A NP_001333826.1:p.Leu304His
NM_001346898.1:c.1046T>A NP_001333827.1:p.Leu349His
NM_001346898.2:c.1046T>A NP_001333827.1:p.Leu349His
NM_001346899.1:c.911T>A NP_001333828.1:p.Leu304His
NM_001346899.2:c.911T>A NP_001333828.1:p.Leu304His
NM_001346900.1:c.887T>A NP_001333829.1:p.Leu296His
NM_001346900.2:c.887T>A NP_001333829.1:p.Leu296His
NM_001346941.1:c.245T>A NP_001333870.1:p.Leu82His
NM_001346941.2:c.245T>A NP_001333870.1:p.Leu82His
NM_005228.3:c.1046T>A , LRG_304t1:c.1046T>A NP_005219.2:p.Leu349His
NM_005228.4:c.1046T>A NP_005219.2:p.Leu349His
NM_201282.1:c.1046T>A NP_958439.1:p.Leu349His
NM_201282.2:c.1046T>A NP_958439.1:p.Leu349His
NM_201283.1:c.1046T>A NP_958440.1:p.Leu349His
NM_201283.2:c.1046T>A NP_958440.1:p.Leu349His
NM_201284.1:c.1046T>A NP_958441.1:p.Leu349His
NM_201284.2:c.1046T>A NP_958441.1:p.Leu349His
ENST00000275493.6:c.1046T>A ENSP00000275493.2:p.Leu349His
ENST00000342916.7:c.1046T>A ENSP00000342376.3:p.Leu349His
ENST00000344576.6:c.1046T>A ENSP00000345973.2:p.Leu349His
ENST00000344576.7:c.1046T>A ENSP00000345973.2:p.Leu349His
ENST00000420316.6:c.1046T>A ENSP00000413843.2:p.Leu349His
ENST00000442591.5:c.1046T>A ENSP00000410031.1:p.Leu349His
ENST00000450046.2:c.887T>A ENSP00000413354.2:p.Leu296His
ENST00000454757.6:c.911T>A ENSP00000395243.3:p.Leu304His
ENST00000455089.5:c.911T>A ENSP00000415559.1:p.Leu304His
ENST00000700144.1:n.1822T>A