Canonical Allele Identifier: CA295468
Gene: ENG HGNC NCBI

Linked Data

ClinVar Variation Id: 163406
dbSNP Id: rs1800956

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127824342C>G , CM000671.2:g.127824342C>G GRCh38
NC_000009.11:g.130586621C>G , CM000671.1:g.130586621C>G GRCh37
NC_000009.10:g.129626442C>G NCBI36
NG_009551.1:g.35427G>C , LRG_589:g.35427G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000480266.6:c.550G>C ENSP00000479015.1:p.Asp184His
ENST00000373203.9:c.1096G>C MANE Select ENSP00000362299.4:p.Asp366His
ENST00000344849.4:c.1096G>C ENSP00000341917.3:p.Asp366His
ENST00000373203.8:c.1096G>C ENSP00000362299.4:p.Asp366His
ENST00000480266.5:c.550G>C ENSP00000479015.1:p.Asp184His
ENST00000486329.1:n.64G>C
NM_000118.3:c.1096G>C , LRG_589t1:c.1096G>C NP_000109.1:p.Asp366His
NM_001114753.2:c.1096G>C , LRG_589t2:c.1096G>C NP_001108225.1:p.Asp366His
NM_001278138.1:c.550G>C NP_001265067.1:p.Asp184His
NM_001114753.3:c.1096G>C MANE Select NP_001108225.1:p.Asp366His
NM_001278138.2:c.550G>C NP_001265067.1:p.Asp184His