Canonical Allele Identifier: CA1708844795
Community Standard Title: NM_005228.5(EGFR):c.-216G=
Gene: EGFR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.55019062G= , CM000669.2:g.55019062G= GRCh38
NC_000007.13:g.55086755G= , CM000669.1:g.55086755G= GRCh37
NC_000007.12:g.55054249G= NCBI36
NG_007726.3:g.5031G= , LRG_304:g.5031G=

Transcript Alleles

HGVS Amino-acid Change
NM_005228.5:c.-216G= MANE Select NP_005219.2:n.-216G=
ENST00000275493.7:c.-216G= MANE Select ENSP00000275493.2:n.-216G=
NM_001346897.1:c.-216G= NP_001333826.1:n.-216G=
NM_001346897.2:c.-216G= NP_001333826.1:n.-216G=
NM_001346898.1:c.-216G= NP_001333827.1:n.-216G=
NM_001346898.2:c.-216G= NP_001333827.1:n.-216G=
NM_001346899.1:c.-216G= NP_001333828.1:n.-216G=
NM_001346899.2:c.-216G= NP_001333828.1:n.-216G=
NM_001346941.1:c.-216G= NP_001333870.1:n.-216G=
NM_001346941.2:c.-216G= NP_001333870.1:n.-216G=
NM_005228.3:c.-216G= , LRG_304t1:c.-216G= NP_005219.2:n.-216G=
NM_005228.4:c.-216G= NP_005219.2:n.-216G=
NM_201282.1:c.-216G= NP_958439.1:n.-216G=
NM_201282.2:c.-216G= NP_958439.1:n.-216G=
NM_201283.1:c.-216G= NP_958440.1:n.-216G=
NM_201283.2:c.-216G= NP_958440.1:n.-216G=
NM_201284.1:c.-216G= NP_958441.1:n.-216G=
NM_201284.2:c.-216G= NP_958441.1:n.-216G=
ENST00000342916.7:c.-216G= ENSP00000342376.3:n.-216G=
ENST00000344576.6:c.-216G= ENSP00000345973.2:n.-216G=
ENST00000344576.7:c.-216G= ENSP00000345973.2:n.-216G=
ENST00000420316.6:c.-216G= ENSP00000413843.2:n.-216G=
ENST00000454757.6:c.-216G= ENSP00000395243.3:n.-216G=
ENST00000455089.5:c.-216G= ENSP00000415559.1:n.-216G=
XR_001745212.2:n.147C=