Canonical Allele Identifier: CA200326846
Gene: ENG HGNC NCBI

Linked Data

ClinVar Variation Id: 439651
ClinVar RCV Id: RCV002056906
dbSNP Id: rs565259710
gnomAD v2: 9-130616754-C-A
gnomAD v3: 9-127854475-C-A
gnomAD v4: 9-127854475-C-A
MyVariant Identifiers: chr9:g.130616754C>A (hg19) chr9:g.127854475C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127854475C>A , CM000671.2:g.127854475C>A GRCh38
NC_000009.11:g.130616754C>A , CM000671.1:g.130616754C>A GRCh37
NC_000009.10:g.129656575C>A NCBI36
NG_009551.1:g.5294G>T , LRG_589:g.5294G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000373203.9:c.-120G>T MANE Select ENSP00000362299.4:n.-120G>T
ENST00000344849.4:c.-120G>T ENSP00000341917.3:n.-120G>T
ENST00000373203.8:c.-120G>T ENSP00000362299.4:n.-120G>T
NM_000118.3:c.-120G>T , LRG_589t1:c.-120G>T NP_000109.1:n.-120G>T
NM_001114753.2:c.-120G>T , LRG_589t2:c.-120G>T NP_001108225.1:n.-120G>T
NM_001114753.3:c.-120G>T MANE Select NP_001108225.1:n.-120G>T
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