Canonical Allele Identifier: CA5253268

Gene: ENG

Linked Data

• ClinVar Variation Id: 374952
• ClinVar RCV Id: RCV000415646 ; RCV000488039 ; RCV001034662 ; RCV001821144 ; RCV002418240 ; RCV003950330
• dbSNP Id: rs139334561
• ExAC: 9:130616628 G / A
• gnomAD v2: 9-130616628-G-A
• gnomAD v3: 9-127854349-G-A
• gnomAD v4: 9-127854349-G-A
• MyVariant Identifiers: chr9:g.130616628G>A (hg19) ; chr9:g.127854349G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127854349G>A , CM000671.2:g.127854349G>A	GRCh38
NC_000009.11:g.130616628G>A , CM000671.1:g.130616628G>A	GRCh37
NC_000009.10:g.129656449G>A	NCBI36
NG_009551.1:g.5420C>T , LRG_589:g.5420C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000373203.9:c.7C>T MANE Select	ENSP00000362299.4:p.Arg3Cys
ENST00000344849.4:c.7C>T	ENSP00000341917.3:p.Arg3Cys
ENST00000373203.8:c.7C>T	ENSP00000362299.4:p.Arg3Cys
NM_000118.3:c.7C>T , LRG_589t1:c.7C>T	NP_000109.1:p.Arg3Cys
NM_001114753.2:c.7C>T , LRG_589t2:c.7C>T	NP_001108225.1:p.Arg3Cys
NM_001114753.3:c.7C>T MANE Select	NP_001108225.1:p.Arg3Cys