Canonical Allele Identifier: CA324406
Gene: ENG HGNC NCBI

Linked Data

ClinVar Variation Id: 213211
ClinVar RCV Id: RCV000199857 RCV000702018 RCV002345703
dbSNP Id: rs863223537
gnomAD v4: 9-127825822-G-A
MyVariant Identifiers: chr9:g.130588101G>A (hg19) chr9:g.127825822G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127825822G>A , CM000671.2:g.127825822G>A GRCh38
NC_000009.11:g.130588101G>A , CM000671.1:g.130588101G>A GRCh37
NC_000009.10:g.129627922G>A NCBI36
NG_009551.1:g.33947C>T , LRG_589:g.33947C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000480266.6:c.16C>T ENSP00000479015.1:p.Gln6Ter
ENST00000373203.9:c.562C>T MANE Select ENSP00000362299.4:p.Gln188Ter
ENST00000344849.4:c.562C>T ENSP00000341917.3:p.Gln188Ter
ENST00000373203.8:c.562C>T ENSP00000362299.4:p.Gln188Ter
ENST00000462196.1:n.462C>T
ENST00000480266.5:c.16C>T ENSP00000479015.1:p.Gln6Ter
NM_000118.3:c.562C>T , LRG_589t1:c.562C>T NP_000109.1:p.Gln188Ter
NM_001114753.2:c.562C>T , LRG_589t2:c.562C>T NP_001108225.1:p.Gln188Ter
NM_001278138.1:c.16C>T NP_001265067.1:p.Gln6Ter
XR_001746952.2:n.82+364G>A
NM_001114753.3:c.562C>T MANE Select NP_001108225.1:p.Gln188Ter
NM_001278138.2:c.16C>T NP_001265067.1:p.Gln6Ter
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