Canonical Allele Identifier: CA374983007

Gene: ENG

Linked Data

• ClinVar Variation Id: 648888
• ClinVar RCV Id: RCV000803704 ; RCV002422749
• dbSNP Id: rs1588581785
• MyVariant Identifiers: chr9:g.130587511C>T (hg19) ; chr9:g.127825232C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127825232C>T , CM000671.2:g.127825232C>T	GRCh38
NC_000009.11:g.130587511C>T , CM000671.1:g.130587511C>T	GRCh37
NC_000009.10:g.129627332C>T	NCBI36
NG_009551.1:g.34537G>A , LRG_589:g.34537G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.269G>A	ENSP00000479015.1:p.Trp90Ter
ENST00000373203.9:c.815G>A MANE Select	ENSP00000362299.4:p.Trp272Ter
ENST00000344849.4:c.815G>A	ENSP00000341917.3:p.Trp272Ter
ENST00000373203.8:c.815G>A	ENSP00000362299.4:p.Trp272Ter
ENST00000480266.5:c.269G>A	ENSP00000479015.1:p.Trp90Ter
NM_000118.3:c.815G>A , LRG_589t1:c.815G>A	NP_000109.1:p.Trp272Ter
NM_001114753.2:c.815G>A , LRG_589t2:c.815G>A	NP_001108225.1:p.Trp272Ter
NM_001278138.1:c.269G>A	NP_001265067.1:p.Trp90Ter
NM_001114753.3:c.815G>A MANE Select	NP_001108225.1:p.Trp272Ter
NM_001278138.2:c.269G>A	NP_001265067.1:p.Trp90Ter