Canonical Allele Identifier: CA5253073

Gene: ENG

Linked Data

• ClinVar Variation Id: 226041
• ClinVar RCV Id: RCV000211433 ; RCV000859173 ; RCV002262803
• dbSNP Id: rs548424658
• ExAC: 9:130588067 C / T
• gnomAD v2: 9-130588067-C-T
• gnomAD v3: 9-127825788-C-T
• gnomAD v4: 9-127825788-C-T
• COSMIC: COSM4592798 ; COSM4592799
• MyVariant Identifiers: chr9:g.130588067C>T (hg19) ; chr9:g.127825788C>T (hg38)
• PubMed: PMID:25637381

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127825788C>T , CM000671.2:g.127825788C>T	GRCh38
NC_000009.11:g.130588067C>T , CM000671.1:g.130588067C>T	GRCh37
NC_000009.10:g.129627888C>T	NCBI36
NG_009551.1:g.33981G>A , LRG_589:g.33981G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.50G>A	ENSP00000479015.1:p.Arg17His
ENST00000373203.9:c.596G>A MANE Select	ENSP00000362299.4:p.Arg199His
ENST00000344849.4:c.596G>A	ENSP00000341917.3:p.Arg199His
ENST00000373203.8:c.596G>A	ENSP00000362299.4:p.Arg199His
ENST00000480266.5:c.50G>A	ENSP00000479015.1:p.Arg17His
NM_000118.3:c.596G>A , LRG_589t1:c.596G>A	NP_000109.1:p.Arg199His
NM_001114753.2:c.596G>A , LRG_589t2:c.596G>A	NP_001108225.1:p.Arg199His
NM_001278138.1:c.50G>A	NP_001265067.1:p.Arg17His
XR_001746952.2:n.82+330C>T
NM_001114753.3:c.596G>A MANE Select	NP_001108225.1:p.Arg199His
NM_001278138.2:c.50G>A	NP_001265067.1:p.Arg17His