Canonical Allele Identifier: CA322673

Gene: ENG

Linked Data

• ClinVar Variation Id: 213213
• ClinVar RCV Id: RCV000198174 ; RCV000553924 ; RCV002408863
• dbSNP Id: rs863223539
• MyVariant Identifiers: chr9:g.130579454A>T (hg19) ; chr9:g.127817175A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127817175A>T , CM000671.2:g.127817175A>T	GRCh38
NC_000009.11:g.130579454A>T , CM000671.1:g.130579454A>T	GRCh37
NC_000009.10:g.129619275A>T	NCBI36
NG_009551.1:g.42594T>A , LRG_589:g.42594T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.1169T>A	ENSP00000479015.1:p.Leu390Ter
ENST00000373203.9:c.1715T>A MANE Select	ENSP00000362299.4:p.Leu572Ter
ENST00000344849.4:c.1715T>A	ENSP00000341917.3:p.Leu572Ter
ENST00000373203.8:c.1715T>A	ENSP00000362299.4:p.Leu572Ter
ENST00000480266.5:c.1169T>A	ENSP00000479015.1:p.Leu390Ter
NM_000118.3:c.1715T>A , LRG_589t1:c.1715T>A	NP_000109.1:p.Leu572Ter
NM_001114753.2:c.1715T>A , LRG_589t2:c.1715T>A	NP_001108225.1:p.Leu572Ter
NM_001278138.1:c.1169T>A	NP_001265067.1:p.Leu390Ter
NR_136302.1:n.1110A>T
NM_001114753.3:c.1715T>A MANE Select	NP_001108225.1:p.Leu572Ter
NM_001278138.2:c.1169T>A	NP_001265067.1:p.Leu390Ter