Canonical Allele Identifier: CA10588467

Gene: ENG

Linked Data

• ClinVar Variation Id: 265370
• ClinVar RCV Id: RCV000255227 ; RCV000274164 ; RCV001034674 ; RCV002450790
• dbSNP Id: rs886039505
• COSMIC: COSM4680969 ; COSM4680970
• MyVariant Identifiers: chr9:g.130591965C>T (hg19) ; chr9:g.127829686C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127829686C>T , CM000671.2:g.127829686C>T	GRCh38
NC_000009.11:g.130591965C>T , CM000671.1:g.130591965C>T	GRCh37
NC_000009.10:g.129631786C>T	NCBI36
NG_009551.1:g.30083G>A , LRG_589:g.30083G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.-187+1G>A	ENSP00000479015.1:n.-187+1G>A
ENST00000373203.9:c.360+1G>A MANE Select	ENSP00000362299.4:n.360+1G>A
ENST00000344849.4:c.360+1G>A	ENSP00000341917.3:n.360+1G>A
ENST00000373203.8:c.360+1G>A	ENSP00000362299.4:n.360+1G>A
ENST00000462196.1:n.118+1G>A
ENST00000480266.5:c.-187+1G>A	ENSP00000479015.1:n.-187+1G>A
NM_000118.3:c.360+1G>A , LRG_589t1:c.360+1G>A	NP_000109.1:n.360+1G>A
NM_001114753.2:c.360+1G>A , LRG_589t2:c.360+1G>A	NP_001108225.1:n.360+1G>A
NM_001278138.1:c.-187+1G>A	NP_001265067.1:n.-187+1G>A
XR_001746952.2:n.83-2712C>T
NM_001114753.3:c.360+1G>A MANE Select	NP_001108225.1:n.360+1G>A
NM_001278138.2:c.-187+1G>A	NP_001265067.1:n.-187+1G>A