Canonical Allele Identifier: CA211420
Gene: ENG HGNC NCBI
ClinGen Classification:
Classification Likely Benign
Condition telangiectasia, hereditary hemorrhagic, type 1
VCEP Hereditary Hemorrhagic Telangiectasia VCEP
ClinVar RCV:
RCV000148485
RCV000246668
RCV000273165
RCV000858405
RCV001610455
RCV002390308
ClinVar Variation:
161231
dbSNP:
116330805
gnomAD v2:
9:130580575 C / T
gnomAD v3:
9:127818296 C / T
gnomAD v4:
chr9-127818296-C-T
Joint Max Group AF 0.00794206 (AFR)
Genomes Max Group AF 0.00796921 (AFR)
Exomes Max Group AF 0.00741637 (AFR)
MyVariant.info:
GRCh38 chr9:g.127818296C>T
GRCh37 chr9:g.130580575C>T
Revel Score:
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127818296C>T , CM000671.2:g.127818296C>T GRCh38
NC_000009.11:g.130580575C>T , CM000671.1:g.130580575C>T GRCh37
NC_000009.10:g.129620396C>T NCBI36
NG_009551.1:g.41473G>A , LRG_589:g.41473G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000480266.6:c.964G>A ENSP00000479015.1:p.Val322Met
ENST00000373203.9:c.1510G>A MANE Select ENSP00000362299.4:p.Val504Met
ENST00000344849.4:c.1510G>A ENSP00000341917.3:p.Val504Met
ENST00000373203.8:c.1510G>A ENSP00000362299.4:p.Val504Met
ENST00000480266.5:c.964G>A ENSP00000479015.1:p.Val322Met
NM_000118.3:c.1510G>A , LRG_589t1:c.1510G>A NP_000109.1:p.Val504Met
NM_001114753.2:c.1510G>A , LRG_589t2:c.1510G>A NP_001108225.1:p.Val504Met
NM_001278138.1:c.964G>A NP_001265067.1:p.Val322Met
NR_136302.1:n.1378-15C>T
NM_001114753.3:c.1510G>A MANE Select NP_001108225.1:p.Val504Met
NM_001278138.2:c.964G>A NP_001265067.1:p.Val322Met
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