Canonical Allele Identifier: CA5252875

Gene: ENG

Linked Data

• ClinVar Variation Id: 699288
• ClinVar RCV Id: RCV001476775 ; RCV003640941
• dbSNP Id: rs200780733
• ExAC: 9:130586574 T / A
• gnomAD v2: 9-130586574-T-A
• gnomAD v3: 9-127824295-T-A
• gnomAD v4: 9-127824295-T-A
• MyVariant Identifiers: chr9:g.130586574T>A (hg19) ; chr9:g.127824295T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127824295T>A , CM000671.2:g.127824295T>A	GRCh38
NC_000009.11:g.130586574T>A , CM000671.1:g.130586574T>A	GRCh37
NC_000009.10:g.129626395T>A	NCBI36
NG_009551.1:g.35474A>T , LRG_589:g.35474A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000480266.6:c.588+9A>T	ENSP00000479015.1:n.588+9A>T
ENST00000373203.9:c.1134+9A>T MANE Select	ENSP00000362299.4:n.1134+9A>T
ENST00000344849.4:c.1134+9A>T	ENSP00000341917.3:n.1134+9A>T
ENST00000373203.8:c.1134+9A>T	ENSP00000362299.4:n.1134+9A>T
ENST00000480266.5:c.588+9A>T	ENSP00000479015.1:n.588+9A>T
ENST00000486329.1:n.102+9A>T
NM_000118.3:c.1134+9A>T , LRG_589t1:c.1134+9A>T	NP_000109.1:n.1134+9A>T
NM_001114753.2:c.1134+9A>T , LRG_589t2:c.1134+9A>T	NP_001108225.1:n.1134+9A>T
NM_001278138.1:c.588+9A>T	NP_001265067.1:n.588+9A>T
NM_001114753.3:c.1134+9A>T MANE Select	NP_001108225.1:n.1134+9A>T
NM_001278138.2:c.588+9A>T	NP_001265067.1:n.588+9A>T