Canonical Allele Identifier: CA1879981882
Gene: ENG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127816004A= , CM000671.2:g.127816004A= GRCh38
NC_000009.11:g.130578283A= , CM000671.1:g.130578283A= GRCh37
NC_000009.10:g.129618104A= NCBI36
NG_009551.1:g.43765T= , LRG_589:g.43765T=
NG_023245.1:g.18130A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000480266.6:c.1245T= ENSP00000479015.1:p.Phe415=
ENST00000373203.9:c.1791T= MANE Select ENSP00000362299.4:p.Phe597=
ENST00000344849.4:c.1791T= ENSP00000341917.3:p.Phe597=
ENST00000373203.8:c.1791T= ENSP00000362299.4:p.Phe597=
ENST00000480266.5:c.1245T= ENSP00000479015.1:p.Phe415=
NM_000118.3:c.1791T= , LRG_589t1:c.1791T= NP_000109.1:p.Phe597=
NM_001114753.2:c.1791T= , LRG_589t2:c.1791T= NP_001108225.1:p.Phe597=
NM_001278138.1:c.1245T= NP_001265067.1:p.Phe415=
NM_001114753.3:c.1791T= MANE Select NP_001108225.1:p.Phe597=
NM_001278138.2:c.1245T= NP_001265067.1:p.Phe415=