Canonical Allele Identifier: CA590606761
Gene: ENG HGNC NCBI

Linked Data

ClinVar Variation Id: 2151154
ClinVar RCV Id: RCV003074671
dbSNP Id: rs1377553955
gnomAD v2: 9-130616646-G-A
gnomAD v3: 9-127854367-G-A
gnomAD v4: 9-127854367-G-A
MyVariant Identifiers: chr9:g.130616646G>A (hg19) chr9:g.127854367G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127854367G>A , CM000671.2:g.127854367G>A GRCh38
NC_000009.11:g.130616646G>A , CM000671.1:g.130616646G>A GRCh37
NC_000009.10:g.129656467G>A NCBI36
NG_009551.1:g.5402C>T , LRG_589:g.5402C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000373203.9:c.-12C>T MANE Select ENSP00000362299.4:n.-12C>T
ENST00000344849.4:c.-12C>T ENSP00000341917.3:n.-12C>T
ENST00000373203.8:c.-12C>T ENSP00000362299.4:n.-12C>T
NM_000118.3:c.-12C>T , LRG_589t1:c.-12C>T NP_000109.1:n.-12C>T
NM_001114753.2:c.-12C>T , LRG_589t2:c.-12C>T NP_001108225.1:n.-12C>T
NM_001114753.3:c.-12C>T MANE Select NP_001108225.1:n.-12C>T
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