Canonical Allele Identifier: CA5253079
Gene: ENG HGNC NCBI
MyVariant.info:
GRCh38 chr9:g.127825795G>A
GRCh37 chr9:g.130588074G>A
Revel Score:
ENST00000373203 (MANE Select) 0.018
ENST00000344849 0.018
ENST00000545345 0.018
ENST00000546301 0.018
gnomAD v2:
9:130588074 G / A
gnomAD v3:
9:127825795 G / A
gnomAD v4:
chr9-127825795-G-A
Joint Max Group AF 0.00003691 (NFE)
Exomes Max Group AF 0.00003831 (NFE)
ClinVar RCV:
RCV000464848
RCV002481415
ClinVar Variation:
407122
dbSNP:
780987528
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127825795G>A , CM000671.2:g.127825795G>A GRCh38
NC_000009.11:g.130588074G>A , CM000671.1:g.130588074G>A GRCh37
NC_000009.10:g.129627895G>A NCBI36
NG_009551.1:g.33974C>T , LRG_589:g.33974C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000480266.6:c.43C>T ENSP00000479015.1:p.Arg15Trp
ENST00000373203.9:c.589C>T MANE Select ENSP00000362299.4:p.Arg197Trp
ENST00000344849.4:c.589C>T ENSP00000341917.3:p.Arg197Trp
ENST00000373203.8:c.589C>T ENSP00000362299.4:p.Arg197Trp
ENST00000462196.1:n.489C>T
ENST00000480266.5:c.43C>T ENSP00000479015.1:p.Arg15Trp
NM_000118.3:c.589C>T , LRG_589t1:c.589C>T NP_000109.1:p.Arg197Trp
NM_001114753.2:c.589C>T , LRG_589t2:c.589C>T NP_001108225.1:p.Arg197Trp
NM_001278138.1:c.43C>T NP_001265067.1:p.Arg15Trp
XR_001746952.2:n.82+337G>A
NM_001114753.3:c.589C>T MANE Select NP_001108225.1:p.Arg197Trp
NM_001278138.2:c.43C>T NP_001265067.1:p.Arg15Trp
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