Canonical Allele Identifier: CA325327
Gene: ENG HGNC NCBI

Linked Data

ClinVar Variation Id: 213200
ClinVar RCV Id: RCV000200751 RCV000205223 RCV001084372 RCV001706172 RCV002345702 RCV003891766
dbSNP Id: rs41322046
ExAC: 9:130588091 C / T
gnomAD v2: 9-130588091-C-T
gnomAD v3: 9-127825812-C-T
gnomAD v4: 9-127825812-C-T
COSMIC: COSM3763658
MyVariant Identifiers: chr9:g.130588091C>T (hg19) chr9:g.127825812C>T (hg38)
ERepo: CA325327/MONDO:0008535/136
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127825812C>T , CM000671.2:g.127825812C>T GRCh38
NC_000009.11:g.130588091C>T , CM000671.1:g.130588091C>T GRCh37
NC_000009.10:g.129627912C>T NCBI36
NG_009551.1:g.33957G>A , LRG_589:g.33957G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000480266.6:c.26G>A ENSP00000479015.1:p.Gly9Asp
ENST00000373203.9:c.572G>A MANE Select ENSP00000362299.4:p.Gly191Asp
ENST00000344849.4:c.572G>A ENSP00000341917.3:p.Gly191Asp
ENST00000373203.8:c.572G>A ENSP00000362299.4:p.Gly191Asp
ENST00000462196.1:n.472G>A
ENST00000480266.5:c.26G>A ENSP00000479015.1:p.Gly9Asp
NM_000118.3:c.572G>A , LRG_589t1:c.572G>A NP_000109.1:p.Gly191Asp
NM_001114753.2:c.572G>A , LRG_589t2:c.572G>A NP_001108225.1:p.Gly191Asp
NM_001278138.1:c.26G>A NP_001265067.1:p.Gly9Asp
XR_001746952.2:n.82+354C>T
NM_001114753.3:c.572G>A MANE Select NP_001108225.1:p.Gly191Asp
NM_001278138.2:c.26G>A NP_001265067.1:p.Gly9Asp
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