Canonical Allele Identifier: CA200326852
Gene: ENG HGNC NCBI

Linked Data

ClinVar Variation Id: 1342717
ClinVar RCV Id: RCV001839476 RCV002543261 RCV003442916
dbSNP Id: rs940261789
gnomAD v3: 9-127854481-C-T
gnomAD v4: 9-127854481-C-T
MyVariant Identifiers: chr9:g.130616760C>T (hg19) chr9:g.127854481C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127854481C>T , CM000671.2:g.127854481C>T GRCh38
NC_000009.11:g.130616760C>T , CM000671.1:g.130616760C>T GRCh37
NC_000009.10:g.129656581C>T NCBI36
NG_009551.1:g.5288G>A , LRG_589:g.5288G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000373203.9:c.-126G>A MANE Select ENSP00000362299.4:n.-126G>A
ENST00000344849.4:c.-126G>A ENSP00000341917.3:n.-126G>A
ENST00000373203.8:c.-126G>A ENSP00000362299.4:n.-126G>A
NM_000118.3:c.-126G>A , LRG_589t1:c.-126G>A NP_000109.1:n.-126G>A
NM_001114753.2:c.-126G>A , LRG_589t2:c.-126G>A NP_001108225.1:n.-126G>A
NM_001114753.3:c.-126G>A MANE Select NP_001108225.1:n.-126G>A
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