Canonical Allele Identifier: CA374983163

Gene: ENG

Linked Data

• ClinVar Variation Id: 426042
• ClinVar RCV Id: RCV000488736 ; RCV000757217
• dbSNP Id: rs1085307431
• MyVariant Identifiers: chr9:g.130587538A>T (hg19) ; chr9:g.127825259A>T (hg38)
• PubMed: PMID:23919827 ; PMID:26387786

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127825259A>T , CM000671.2:g.127825259A>T	GRCh38
NC_000009.11:g.130587538A>T , CM000671.1:g.130587538A>T	GRCh37
NC_000009.10:g.129627359A>T	NCBI36
NG_009551.1:g.34510T>A , LRG_589:g.34510T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000480266.6:c.242T>A	ENSP00000479015.1:p.Ile81Asn
ENST00000373203.9:c.788T>A MANE Select	ENSP00000362299.4:p.Ile263Asn
ENST00000344849.4:c.788T>A	ENSP00000341917.3:p.Ile263Asn
ENST00000373203.8:c.788T>A	ENSP00000362299.4:p.Ile263Asn
ENST00000480266.5:c.242T>A	ENSP00000479015.1:p.Ile81Asn
NM_000118.3:c.788T>A , LRG_589t1:c.788T>A	NP_000109.1:p.Ile263Asn
NM_001114753.2:c.788T>A , LRG_589t2:c.788T>A	NP_001108225.1:p.Ile263Asn
NM_001278138.1:c.242T>A	NP_001265067.1:p.Ile81Asn
NM_001114753.3:c.788T>A MANE Select	NP_001108225.1:p.Ile263Asn
NM_001278138.2:c.242T>A	NP_001265067.1:p.Ile81Asn