Canonical Allele Identifier: CA5252951
Gene: ENG HGNC NCBI
MyVariant.info:
GRCh38 chr9:g.127824941C>T
GRCh37 chr9:g.130587220C>T
Revel Score:
ENST00000373203 (MANE Select) 0.045
ENST00000344849 0.045
ENST00000545345 0.045
ENST00000546301 0.045
gnomAD v2:
9:130587220 C / T
gnomAD v3:
9:127824941 C / T
gnomAD v4:
chr9-127824941-C-T
Joint Max Group AF 0.00007735 (AMR)
Genomes Max Group AF 0.00000488 (NFE)
Exomes Max Group AF 0.00008864 (AMR)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127824941C>T , CM000671.2:g.127824941C>T GRCh38
NC_000009.11:g.130587220C>T , CM000671.1:g.130587220C>T GRCh37
NC_000009.10:g.129627041C>T NCBI36
NG_009551.1:g.34828G>A , LRG_589:g.34828G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000480266.6:c.304G>A ENSP00000479015.1:p.Glu102Lys
ENST00000373203.9:c.850G>A MANE Select ENSP00000362299.4:p.Glu284Lys
ENST00000344849.4:c.850G>A ENSP00000341917.3:p.Glu284Lys
ENST00000373203.8:c.850G>A ENSP00000362299.4:p.Glu284Lys
ENST00000480266.5:c.304G>A ENSP00000479015.1:p.Glu102Lys
NM_000118.3:c.850G>A , LRG_589t1:c.850G>A NP_000109.1:p.Glu284Lys
NM_001114753.2:c.850G>A , LRG_589t2:c.850G>A NP_001108225.1:p.Glu284Lys
NM_001278138.1:c.304G>A NP_001265067.1:p.Glu102Lys
NM_001114753.3:c.850G>A MANE Select NP_001108225.1:p.Glu284Lys
NM_001278138.2:c.304G>A NP_001265067.1:p.Glu102Lys
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