Canonical Allele Identifier: CA320116
Gene: ENG HGNC NCBI

Linked Data

ClinVar Variation Id: 213207
ClinVar RCV Id: RCV000195747 RCV002327036
dbSNP Id: rs863223534
MyVariant Identifiers: chr9:g.130588866C>T (hg19) chr9:g.127826587C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127826587C>T , CM000671.2:g.127826587C>T GRCh38
NC_000009.11:g.130588866C>T , CM000671.1:g.130588866C>T GRCh37
NC_000009.10:g.129628687C>T NCBI36
NG_009551.1:g.33182G>A , LRG_589:g.33182G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000480266.6:c.-101G>A ENSP00000479015.1:n.-101G>A
ENST00000373203.9:c.446G>A MANE Select ENSP00000362299.4:p.Trp149Ter
ENST00000344849.4:c.446G>A ENSP00000341917.3:p.Trp149Ter
ENST00000373203.8:c.446G>A ENSP00000362299.4:p.Trp149Ter
ENST00000462196.1:n.346G>A
ENST00000480266.5:c.-101G>A ENSP00000479015.1:n.-101G>A
NM_000118.3:c.446G>A , LRG_589t1:c.446G>A NP_000109.1:p.Trp149Ter
NM_001114753.2:c.446G>A , LRG_589t2:c.446G>A NP_001108225.1:p.Trp149Ter
NM_001278138.1:c.-101G>A NP_001265067.1:n.-101G>A
XR_001746952.2:n.82+1129C>T
NM_001114753.3:c.446G>A MANE Select NP_001108225.1:p.Trp149Ter
NM_001278138.2:c.-101G>A NP_001265067.1:n.-101G>A
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