Canonical Allele Identifier: CA590606725

Gene: ENG

Linked Data

• ClinVar Variation Id: 779796
• ClinVar RCV Id: RCV001461255
• dbSNP Id: rs1455679426
• gnomAD v2: 9-130616561-C-T
• gnomAD v3: 9-127854282-C-T
• gnomAD v4: 9-127854282-C-T
• MyVariant Identifiers: chr9:g.130616561C>T (hg19) ; chr9:g.127854282C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127854282C>T , CM000671.2:g.127854282C>T	GRCh38
NC_000009.11:g.130616561C>T , CM000671.1:g.130616561C>T	GRCh37
NC_000009.10:g.129656382C>T	NCBI36
NG_009551.1:g.5487G>A , LRG_589:g.5487G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000373203.9:c.67+7G>A MANE Select	ENSP00000362299.4:n.67+7G>A
ENST00000344849.4:c.67+7G>A	ENSP00000341917.3:n.67+7G>A
ENST00000373203.8:c.67+7G>A	ENSP00000362299.4:n.67+7G>A
NM_000118.3:c.67+7G>A , LRG_589t1:c.67+7G>A	NP_000109.1:n.67+7G>A
NM_001114753.2:c.67+7G>A , LRG_589t2:c.67+7G>A	NP_001108225.1:n.67+7G>A
NM_001114753.3:c.67+7G>A MANE Select	NP_001108225.1:n.67+7G>A