Canonical Allele Identifier: CA374988833

Gene: ENG

Linked Data

• ClinVar Variation Id: 458343
• ClinVar RCV Id: RCV000547239 ; RCV002420376
• dbSNP Id: rs1554812253
• MyVariant Identifiers: chr9:g.130605372C>T (hg19) ; chr9:g.127843093C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127843093C>T , CM000671.2:g.127843093C>T	GRCh38
NC_000009.11:g.130605372C>T , CM000671.1:g.130605372C>T	GRCh37
NC_000009.10:g.129645193C>T	NCBI36
NG_009551.1:g.16676G>A , LRG_589:g.16676G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.-328+1G>A	ENSP00000479015.1:n.-328+1G>A
ENST00000373203.9:c.219+1G>A MANE Select	ENSP00000362299.4:n.219+1G>A
ENST00000344849.4:c.219+1G>A	ENSP00000341917.3:n.219+1G>A
ENST00000373203.8:c.219+1G>A	ENSP00000362299.4:n.219+1G>A
ENST00000480266.5:c.-328+1G>A	ENSP00000479015.1:n.-328+1G>A
NM_000118.3:c.219+1G>A , LRG_589t1:c.219+1G>A	NP_000109.1:n.219+1G>A
NM_001114753.2:c.219+1G>A , LRG_589t2:c.219+1G>A	NP_001108225.1:n.219+1G>A
NM_001278138.1:c.-328+1G>A	NP_001265067.1:n.-328+1G>A
NM_001114753.3:c.219+1G>A MANE Select	NP_001108225.1:n.219+1G>A
NM_001278138.2:c.-328+1G>A	NP_001265067.1:n.-328+1G>A