Canonical Allele Identifier: CA5253160
Gene: ENG HGNC NCBI
MyVariant.info:
GRCh38 chr9:g.127829725G>A
GRCh37 chr9:g.130592004G>A
Revel Score:
ENST00000373203 (MANE Select) 0.018
ENST00000344849 0.018
ENST00000545345 0.018
gnomAD v2:
9:130592004 G / A
gnomAD v3:
9:127829725 G / A
gnomAD v4:
chr9-127829725-G-A
Joint Max Group AF 0.00716009 (MID)
Genomes Max Group AF 0.00012403 (NFE)
Exomes Max Group AF 0.00691037 (MID)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127829725G>A , CM000671.2:g.127829725G>A GRCh38
NC_000009.11:g.130592004G>A , CM000671.1:g.130592004G>A GRCh37
NC_000009.10:g.129631825G>A NCBI36
NG_009551.1:g.30044C>T , LRG_589:g.30044C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000480266.6:c.-225C>T ENSP00000479015.1:n.-225C>T
ENST00000373203.9:c.322C>T MANE Select ENSP00000362299.4:p.His108Tyr
ENST00000344849.4:c.322C>T ENSP00000341917.3:p.His108Tyr
ENST00000373203.8:c.322C>T ENSP00000362299.4:p.His108Tyr
ENST00000462196.1:n.80C>T
ENST00000480266.5:c.-225C>T ENSP00000479015.1:n.-225C>T
NM_000118.3:c.322C>T , LRG_589t1:c.322C>T NP_000109.1:p.His108Tyr
NM_001114753.2:c.322C>T , LRG_589t2:c.322C>T NP_001108225.1:p.His108Tyr
NM_001278138.1:c.-225C>T NP_001265067.1:n.-225C>T
XR_001746952.2:n.83-2673G>A
NM_001114753.3:c.322C>T MANE Select NP_001108225.1:p.His108Tyr
NM_001278138.2:c.-225C>T NP_001265067.1:n.-225C>T
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