Canonical Allele Identifier: CA1879981947
Gene: ENG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127816028C= , CM000671.2:g.127816028C= GRCh38
NC_000009.11:g.130578307C= , CM000671.1:g.130578307C= GRCh37
NC_000009.10:g.129618128C= NCBI36
NG_009551.1:g.43741G= , LRG_589:g.43741G=
NG_023245.1:g.18154C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000480266.6:c.1221G= ENSP00000479015.1:p.Leu407=
ENST00000373203.9:c.1767G= MANE Select ENSP00000362299.4:p.Leu589=
ENST00000344849.4:c.1767G= ENSP00000341917.3:p.Leu589=
ENST00000373203.8:c.1767G= ENSP00000362299.4:p.Leu589=
ENST00000480266.5:c.1221G= ENSP00000479015.1:p.Leu407=
NM_000118.3:c.1767G= , LRG_589t1:c.1767G= NP_000109.1:p.Leu589=
NM_001114753.2:c.1767G= , LRG_589t2:c.1767G= NP_001108225.1:p.Leu589=
NM_001278138.1:c.1221G= NP_001265067.1:p.Leu407=
NM_001114753.3:c.1767G= MANE Select NP_001108225.1:p.Leu589=
NM_001278138.2:c.1221G= NP_001265067.1:p.Leu407=