Canonical Allele Identifier: CA5252756
Gene: ENG HGNC NCBI
MyVariant.info:
GRCh38 chr9:g.127818359C>T
GRCh37 chr9:g.130580638C>T
Revel Score:
ENST00000373203 (MANE Select) 0.094
ENST00000344849 0.094
ENST00000545345 0.094
ENST00000546301 0.094
gnomAD v2:
9:130580638 C / T
gnomAD v3:
9:127818359 C / T
gnomAD v4:
chr9-127818359-C-T
Joint Max Group AF 0.00069702 (AFR)
Genomes Max Group AF 0.00119055 (EAS)
Exomes Max Group AF 0.00046907 (AFR)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127818359C>T , CM000671.2:g.127818359C>T GRCh38
NC_000009.11:g.130580638C>T , CM000671.1:g.130580638C>T GRCh37
NC_000009.10:g.129620459C>T NCBI36
NG_009551.1:g.41410G>A , LRG_589:g.41410G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000480266.6:c.901G>A ENSP00000479015.1:p.Val301Ile
ENST00000373203.9:c.1447G>A MANE Select ENSP00000362299.4:p.Val483Ile
ENST00000344849.4:c.1447G>A ENSP00000341917.3:p.Val483Ile
ENST00000373203.8:c.1447G>A ENSP00000362299.4:p.Val483Ile
ENST00000480266.5:c.901G>A ENSP00000479015.1:p.Val301Ile
NM_000118.3:c.1447G>A , LRG_589t1:c.1447G>A NP_000109.1:p.Val483Ile
NM_001114753.2:c.1447G>A , LRG_589t2:c.1447G>A NP_001108225.1:p.Val483Ile
NM_001278138.1:c.901G>A NP_001265067.1:p.Val301Ile
NR_136302.1:n.1426C>T
NM_001114753.3:c.1447G>A MANE Select NP_001108225.1:p.Val483Ile
NM_001278138.2:c.901G>A NP_001265067.1:p.Val301Ile
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