Canonical Allele Identifier: CA16612408

Gene: ENG

Linked Data

• ClinVar Variation Id: 407121
• ClinVar RCV Id: RCV000460714 ; RCV001753879 ; RCV002365627
• dbSNP Id: rs1060501415
• MyVariant Identifiers: chr9:g.130587613A>T (hg19) ; chr9:g.127825334A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127825334A>T , CM000671.2:g.127825334A>T	GRCh38
NC_000009.11:g.130587613A>T , CM000671.1:g.130587613A>T	GRCh37
NC_000009.10:g.129627434A>T	NCBI36
NG_009551.1:g.34435T>A , LRG_589:g.34435T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.167T>A	ENSP00000479015.1:p.Val56Glu
ENST00000373203.9:c.713T>A MANE Select	ENSP00000362299.4:p.Val238Glu
ENST00000344849.4:c.713T>A	ENSP00000341917.3:p.Val238Glu
ENST00000373203.8:c.713T>A	ENSP00000362299.4:p.Val238Glu
ENST00000480266.5:c.167T>A	ENSP00000479015.1:p.Val56Glu
NM_000118.3:c.713T>A , LRG_589t1:c.713T>A	NP_000109.1:p.Val238Glu
NM_001114753.2:c.713T>A , LRG_589t2:c.713T>A	NP_001108225.1:p.Val238Glu
NM_001278138.1:c.167T>A	NP_001265067.1:p.Val56Glu
NM_001114753.3:c.713T>A MANE Select	NP_001108225.1:p.Val238Glu
NM_001278138.2:c.167T>A	NP_001265067.1:p.Val56Glu