Canonical Allele Identifier: CA374981647

Gene: ENG

Linked Data

• ClinVar Variation Id: 1679952
• ClinVar RCV Id: RCV002236394
• dbSNP Id: rs1446116085
• MyVariant Identifiers: chr9:g.130586678T>A (hg19) ; chr9:g.127824399T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127824399T>A , CM000671.2:g.127824399T>A	GRCh38
NC_000009.11:g.130586678T>A , CM000671.1:g.130586678T>A	GRCh37
NC_000009.10:g.129626499T>A	NCBI36
NG_009551.1:g.35370A>T , LRG_589:g.35370A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.493A>T	ENSP00000479015.1:p.Lys165Ter
ENST00000373203.9:c.1039A>T MANE Select	ENSP00000362299.4:p.Lys347Ter
ENST00000344849.4:c.1039A>T	ENSP00000341917.3:p.Lys347Ter
ENST00000373203.8:c.1039A>T	ENSP00000362299.4:p.Lys347Ter
ENST00000480266.5:c.493A>T	ENSP00000479015.1:p.Lys165Ter
ENST00000486329.1:n.7A>T
NM_000118.3:c.1039A>T , LRG_589t1:c.1039A>T	NP_000109.1:p.Lys347Ter
NM_001114753.2:c.1039A>T , LRG_589t2:c.1039A>T	NP_001108225.1:p.Lys347Ter
NM_001278138.1:c.493A>T	NP_001265067.1:p.Lys165Ter
NM_001114753.3:c.1039A>T MANE Select	NP_001108225.1:p.Lys347Ter
NM_001278138.2:c.493A>T	NP_001265067.1:p.Lys165Ter