Canonical Allele Identifier: CA10582616

Gene: ENG

Linked Data

• ClinVar Variation Id: 237030
• ClinVar RCV Id: RCV000232191 ; RCV000578937 ; RCV001388235 ; RCV002365173
• dbSNP Id: rs878853659
• gnomAD v4: 9-127843246-C-T
• MyVariant Identifiers: chr9:g.130605525C>T (hg19) ; chr9:g.127843246C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127843246C>T , CM000671.2:g.127843246C>T	GRCh38
NC_000009.11:g.130605525C>T , CM000671.1:g.130605525C>T	GRCh37
NC_000009.10:g.129645346C>T	NCBI36
NG_009551.1:g.16523G>A , LRG_589:g.16523G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.-479-1G>A	ENSP00000479015.1:n.-479-1G>A
ENST00000373203.9:c.68-1G>A MANE Select	ENSP00000362299.4:n.68-1G>A
ENST00000344849.4:c.68-1G>A	ENSP00000341917.3:n.68-1G>A
ENST00000373203.8:c.68-1G>A	ENSP00000362299.4:n.68-1G>A
ENST00000480266.5:c.-479-1G>A	ENSP00000479015.1:n.-479-1G>A
NM_000118.3:c.68-1G>A , LRG_589t1:c.68-1G>A	NP_000109.1:n.68-1G>A
NM_001114753.2:c.68-1G>A , LRG_589t2:c.68-1G>A	NP_001108225.1:n.68-1G>A
NM_001278138.1:c.-479-1G>A	NP_001265067.1:n.-479-1G>A
NM_001114753.3:c.68-1G>A MANE Select	NP_001108225.1:n.68-1G>A
NM_001278138.2:c.-479-1G>A	NP_001265067.1:n.-479-1G>A