Canonical Allele Identifier: CA5252630
Gene: ENG HGNC NCBI

Linked Data

ClinVar Variation Id: 528075
dbSNP Id: rs370943570

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127816025G>A , CM000671.2:g.127816025G>A GRCh38
NC_000009.11:g.130578304G>A , CM000671.1:g.130578304G>A GRCh37
NC_000009.10:g.129618125G>A NCBI36
NG_009551.1:g.43744C>T , LRG_589:g.43744C>T
NG_023245.1:g.18151G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000480266.6:c.1224C>T ENSP00000479015.1:p.Pro408=
ENST00000373203.9:c.1770C>T MANE Select ENSP00000362299.4:p.Pro590=
ENST00000344849.4:c.1770C>T ENSP00000341917.3:p.Pro590=
ENST00000373203.8:c.1770C>T ENSP00000362299.4:p.Pro590=
ENST00000480266.5:c.1224C>T ENSP00000479015.1:p.Pro408=
NM_000118.3:c.1770C>T , LRG_589t1:c.1770C>T NP_000109.1:p.Pro590=
NM_001114753.2:c.1770C>T , LRG_589t2:c.1770C>T NP_001108225.1:p.Pro590=
NM_001278138.1:c.1224C>T NP_001265067.1:p.Pro408=
NM_001114753.3:c.1770C>T MANE Select NP_001108225.1:p.Pro590=
NM_001278138.2:c.1224C>T NP_001265067.1:p.Pro408=