Canonical Allele Identifier: CA3149792147
Community Standard Title: NM_005228.5(EGFR):c.1040A= (p.Asp347=)
Gene: EGFR HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.55156566A= , CM000669.2:g.55156566A= GRCh38
NC_000007.13:g.55224259A= , CM000669.1:g.55224259A= GRCh37
NC_000007.12:g.55191753A= NCBI36
NG_007726.3:g.142535A= , LRG_304:g.142535A=

Transcript Alleles

HGVS Amino-acid Change
NM_005228.5:c.1040A= MANE Select NP_005219.2:p.Asp347=
ENST00000275493.7:c.1040A= MANE Select ENSP00000275493.2:p.Asp347=
NM_001346897.1:c.905A= NP_001333826.1:p.Asp302=
NM_001346897.2:c.905A= NP_001333826.1:p.Asp302=
NM_001346898.1:c.1040A= NP_001333827.1:p.Asp347=
NM_001346898.2:c.1040A= NP_001333827.1:p.Asp347=
NM_001346899.1:c.905A= NP_001333828.1:p.Asp302=
NM_001346899.2:c.905A= NP_001333828.1:p.Asp302=
NM_001346900.1:c.881A= NP_001333829.1:p.Asp294=
NM_001346900.2:c.881A= NP_001333829.1:p.Asp294=
NM_001346941.1:c.239A= NP_001333870.1:p.Asp80=
NM_001346941.2:c.239A= NP_001333870.1:p.Asp80=
NM_005228.3:c.1040A= , LRG_304t1:c.1040A= NP_005219.2:p.Asp347=
NM_005228.4:c.1040A= NP_005219.2:p.Asp347=
NM_201282.1:c.1040A= NP_958439.1:p.Asp347=
NM_201282.2:c.1040A= NP_958439.1:p.Asp347=
NM_201283.1:c.1040A= NP_958440.1:p.Asp347=
NM_201283.2:c.1040A= NP_958440.1:p.Asp347=
NM_201284.1:c.1040A= NP_958441.1:p.Asp347=
NM_201284.2:c.1040A= NP_958441.1:p.Asp347=
ENST00000275493.6:c.1040A= ENSP00000275493.2:p.Asp347=
ENST00000342916.7:c.1040A= ENSP00000342376.3:p.Asp347=
ENST00000344576.6:c.1040A= ENSP00000345973.2:p.Asp347=
ENST00000344576.7:c.1040A= ENSP00000345973.2:p.Asp347=
ENST00000420316.6:c.1040A= ENSP00000413843.2:p.Asp347=
ENST00000442591.5:c.1040A= ENSP00000410031.1:p.Asp347=
ENST00000450046.2:c.881A= ENSP00000413354.2:p.Asp294=
ENST00000454757.6:c.905A= ENSP00000395243.3:p.Asp302=
ENST00000455089.5:c.905A= ENSP00000415559.1:p.Asp302=
ENST00000700144.1:n.1816A=
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