Canonical Allele Identifier: CA5252882
Gene: ENG HGNC NCBI
MyVariant.info:
GRCh38 chr9:g.127824342C>T
GRCh37 chr9:g.130586621C>T
Revel Score:
ENST00000373203 (MANE Select) 0.224
ENST00000344849 0.224
ENST00000545345 0.224
ENST00000546301 0.224
gnomAD v2:
9:130586621 C / T
gnomAD v4:
chr9-127824342-C-T
Joint Max Group AF 6.8e-7 (NFE)
Exomes Max Group AF 7.2e-7 (NFE)
ClinVar RCV:
RCV001880396
ClinVar Variation:
1356315
dbSNP:
1800956
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127824342C>T , CM000671.2:g.127824342C>T GRCh38
NC_000009.11:g.130586621C>T , CM000671.1:g.130586621C>T GRCh37
NC_000009.10:g.129626442C>T NCBI36
NG_009551.1:g.35427G>A , LRG_589:g.35427G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000480266.6:c.550G>A ENSP00000479015.1:p.Asp184Asn
ENST00000373203.9:c.1096G>A MANE Select ENSP00000362299.4:p.Asp366Asn
ENST00000344849.4:c.1096G>A ENSP00000341917.3:p.Asp366Asn
ENST00000373203.8:c.1096G>A ENSP00000362299.4:p.Asp366Asn
ENST00000480266.5:c.550G>A ENSP00000479015.1:p.Asp184Asn
ENST00000486329.1:n.64G>A
NM_000118.3:c.1096G>A , LRG_589t1:c.1096G>A NP_000109.1:p.Asp366Asn
NM_001114753.2:c.1096G>A , LRG_589t2:c.1096G>A NP_001108225.1:p.Asp366Asn
NM_001278138.1:c.550G>A NP_001265067.1:p.Asp184Asn
NM_001114753.3:c.1096G>A MANE Select NP_001108225.1:p.Asp366Asn
NM_001278138.2:c.550G>A NP_001265067.1:p.Asp184Asn
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