Canonical Allele Identifier: CA860212123
Gene: ENG HGNC NCBI

Linked Data

dbSNP Id: rs1256386848
gnomAD v3: 9-127854368-G-T
gnomAD v4: 9-127854368-G-T
MyVariant Identifiers: chr9:g.130616647G>T (hg19) chr9:g.127854368G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127854368G>T , CM000671.2:g.127854368G>T GRCh38
NC_000009.11:g.130616647G>T , CM000671.1:g.130616647G>T GRCh37
NC_000009.10:g.129656468G>T NCBI36
NG_009551.1:g.5401C>A , LRG_589:g.5401C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000373203.9:c.-13C>A MANE Select ENSP00000362299.4:n.-13C>A
ENST00000344849.4:c.-13C>A ENSP00000341917.3:n.-13C>A
ENST00000373203.8:c.-13C>A ENSP00000362299.4:n.-13C>A
NM_000118.3:c.-13C>A , LRG_589t1:c.-13C>A NP_000109.1:n.-13C>A
NM_001114753.2:c.-13C>A , LRG_589t2:c.-13C>A NP_001108225.1:n.-13C>A
NM_001114753.3:c.-13C>A MANE Select NP_001108225.1:n.-13C>A
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