Canonical Allele Identifier: CA202695
Gene: ENG HGNC NCBI
MyVariant.info:
GRCh38 chr9:g.127826641G>A
GRCh37 chr9:g.130588920G>A
Revel Score:
ENST00000373203 (MANE Select) 0.315
ENST00000344849 0.315
ENST00000545345 0.315
gnomAD v2:
9:130588920 G / A
gnomAD v3:
9:127826641 G / A
gnomAD v4:
chr9-127826641-G-A
Joint Max Group AF 0.02453604 (SAS)
Genomes Max Group AF 0.0239515 (SAS)
Exomes Max Group AF 0.02438125 (SAS)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127826641G>A , CM000671.2:g.127826641G>A GRCh38
NC_000009.11:g.130588920G>A , CM000671.1:g.130588920G>A GRCh37
NC_000009.10:g.129628741G>A NCBI36
NG_009551.1:g.33128C>T , LRG_589:g.33128C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000480266.6:c.-155C>T ENSP00000479015.1:n.-155C>T
ENST00000373203.9:c.392C>T MANE Select ENSP00000362299.4:p.Pro131Leu
ENST00000344849.4:c.392C>T ENSP00000341917.3:p.Pro131Leu
ENST00000373203.8:c.392C>T ENSP00000362299.4:p.Pro131Leu
ENST00000462196.1:n.292C>T
ENST00000480266.5:c.-155C>T ENSP00000479015.1:n.-155C>T
NM_000118.3:c.392C>T , LRG_589t1:c.392C>T NP_000109.1:p.Pro131Leu
NM_001114753.2:c.392C>T , LRG_589t2:c.392C>T NP_001108225.1:p.Pro131Leu
NM_001278138.1:c.-155C>T NP_001265067.1:n.-155C>T
XR_001746952.2:n.82+1183G>A
NM_001114753.3:c.392C>T MANE Select NP_001108225.1:p.Pro131Leu
NM_001278138.2:c.-155C>T NP_001265067.1:n.-155C>T
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