Canonical Allele Identifier: CA590606753
Gene: ENG HGNC NCBI

Linked Data

dbSNP Id: rs1345792000
gnomAD v2: 9-130616642-A-G
gnomAD v3: 9-127854363-A-G
gnomAD v4: 9-127854363-A-G
MyVariant Identifiers: chr9:g.130616642A>G (hg19) chr9:g.127854363A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127854363A>G , CM000671.2:g.127854363A>G GRCh38
NC_000009.11:g.130616642A>G , CM000671.1:g.130616642A>G GRCh37
NC_000009.10:g.129656463A>G NCBI36
NG_009551.1:g.5406T>C , LRG_589:g.5406T>C

Transcript Alleles

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