Canonical Allele Identifier: CA374989707
Gene: ENG HGNC NCBI

Linked Data

ClinVar Variation Id: 2735353
ClinVar RCV Id: RCV003593379
gnomAD v4: 9-127854353-C-T
MyVariant Identifiers: chr9:g.130616632C>T (hg19) chr9:g.127854353C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127854353C>T , CM000671.2:g.127854353C>T GRCh38
NC_000009.11:g.130616632C>T , CM000671.1:g.130616632C>T GRCh37
NC_000009.10:g.129656453C>T NCBI36
NG_009551.1:g.5416G>A , LRG_589:g.5416G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000373203.9:c.3G>A MANE Select ENSP00000362299.4:p.Met1Ile
ENST00000344849.4:c.3G>A ENSP00000341917.3:p.Met1Ile
ENST00000373203.8:c.3G>A ENSP00000362299.4:p.Met1Ile
NM_000118.3:c.3G>A , LRG_589t1:c.3G>A NP_000109.1:p.Met1Ile
NM_001114753.2:c.3G>A , LRG_589t2:c.3G>A NP_001108225.1:p.Met1Ile
NM_001114753.3:c.3G>A MANE Select NP_001108225.1:p.Met1Ile
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