Canonical Allele Identifier: CA374977979
Gene: ENG HGNC NCBI

Linked Data

ClinVar Variation Id: 439662

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127819627G>A , CM000671.2:g.127819627G>A GRCh38
NC_000009.11:g.130581906G>A , CM000671.1:g.130581906G>A GRCh37
NC_000009.10:g.129621727G>A NCBI36
NG_009551.1:g.40142C>T , LRG_589:g.40142C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000373203.9:c.1306C>T MANE Select ENSP00000362299.4:p.Gln436Ter
ENST00000344849.4:c.1306C>T ENSP00000341917.3:p.Gln436Ter
ENST00000373203.8:c.1306C>T ENSP00000362299.4:p.Gln436Ter
ENST00000480266.5:c.760C>T ENSP00000479015.1:p.Gln254Ter
ENST00000486329.1:n.274C>T
NM_000118.3:c.1306C>T , LRG_589t1:c.1306C>T NP_000109.1:p.Gln436Ter
NM_001114753.2:c.1306C>T , LRG_589t2:c.1306C>T NP_001108225.1:p.Gln436Ter
NM_001278138.1:c.760C>T NP_001265067.1:p.Gln254Ter
NR_136302.1:n.1568+916G>A
NM_001114753.3:c.1306C>T MANE Select NP_001108225.1:p.Gln436Ter
NM_001278138.2:c.760C>T NP_001265067.1:p.Gln254Ter