Canonical Allele Identifier: CA590606723
Gene: ENG HGNC NCBI

Linked Data

dbSNP Id: rs775737444
gnomAD v2: 9-130616556-C-T
gnomAD v4: 9-127854277-C-T
MyVariant Identifiers: chr9:g.130616556C>T (hg19) chr9:g.127854277C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127854277C>T , CM000671.2:g.127854277C>T GRCh38
NC_000009.11:g.130616556C>T , CM000671.1:g.130616556C>T GRCh37
NC_000009.10:g.129656377C>T NCBI36
NG_009551.1:g.5492G>A , LRG_589:g.5492G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000373203.9:c.67+12G>A MANE Select ENSP00000362299.4:n.67+12G>A
ENST00000344849.4:c.67+12G>A ENSP00000341917.3:n.67+12G>A
ENST00000373203.8:c.67+12G>A ENSP00000362299.4:n.67+12G>A
NM_000118.3:c.67+12G>A , LRG_589t1:c.67+12G>A NP_000109.1:n.67+12G>A
NM_001114753.2:c.67+12G>A , LRG_589t2:c.67+12G>A NP_001108225.1:n.67+12G>A
NM_001114753.3:c.67+12G>A MANE Select NP_001108225.1:n.67+12G>A
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