Canonical Allele Identifier: CA5252671

Gene: ENG

Linked Data

• ClinVar Variation Id: 414310
• ClinVar RCV Id: RCV000834993 ; RCV001081138 ; RCV001262059 ; RCV001821326 ; RCV002402331
• dbSNP Id: rs138799379
• ExAC: 9:130579457 C / T
• gnomAD v2: 9-130579457-C-T
• gnomAD v3: 9-127817178-C-T
• gnomAD v4: 9-127817178-C-T
• MyVariant Identifiers: chr9:g.130579457C>T (hg19) ; chr9:g.127817178C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127817178C>T , CM000671.2:g.127817178C>T	GRCh38
NC_000009.11:g.130579457C>T , CM000671.1:g.130579457C>T	GRCh37
NC_000009.10:g.129619278C>T	NCBI36
NG_009551.1:g.42591G>A , LRG_589:g.42591G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.1166G>A	ENSP00000479015.1:p.Arg389His
ENST00000373203.9:c.1712G>A MANE Select	ENSP00000362299.4:p.Arg571His
ENST00000344849.4:c.1712G>A	ENSP00000341917.3:p.Arg571His
ENST00000373203.8:c.1712G>A	ENSP00000362299.4:p.Arg571His
ENST00000480266.5:c.1166G>A	ENSP00000479015.1:p.Arg389His
NM_000118.3:c.1712G>A , LRG_589t1:c.1712G>A	NP_000109.1:p.Arg571His
NM_001114753.2:c.1712G>A , LRG_589t2:c.1712G>A	NP_001108225.1:p.Arg571His
NM_001278138.1:c.1166G>A	NP_001265067.1:p.Arg389His
NR_136302.1:n.1113C>T
NM_001114753.3:c.1712G>A MANE Select	NP_001108225.1:p.Arg571His
NM_001278138.2:c.1166G>A	NP_001265067.1:p.Arg389His