Canonical Allele Identifier: CA5252951

Gene: ENG

Linked Data

• ClinVar Variation Id: 528083
• ClinVar RCV Id: RCV000633165 ; RCV001165467 ; RCV002292573 ; RCV002413813
• dbSNP Id: rs372045549
• ExAC: 9:130587220 C / T
• gnomAD v2: 9-130587220-C-T
• gnomAD v3: 9-127824941-C-T
• gnomAD v4: 9-127824941-C-T
• MyVariant Identifiers: chr9:g.130587220C>T (hg19) ; chr9:g.127824941C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127824941C>T , CM000671.2:g.127824941C>T	GRCh38
NC_000009.11:g.130587220C>T , CM000671.1:g.130587220C>T	GRCh37
NC_000009.10:g.129627041C>T	NCBI36
NG_009551.1:g.34828G>A , LRG_589:g.34828G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.304G>A	ENSP00000479015.1:p.Glu102Lys
ENST00000373203.9:c.850G>A MANE Select	ENSP00000362299.4:p.Glu284Lys
ENST00000344849.4:c.850G>A	ENSP00000341917.3:p.Glu284Lys
ENST00000373203.8:c.850G>A	ENSP00000362299.4:p.Glu284Lys
ENST00000480266.5:c.304G>A	ENSP00000479015.1:p.Glu102Lys
NM_000118.3:c.850G>A , LRG_589t1:c.850G>A	NP_000109.1:p.Glu284Lys
NM_001114753.2:c.850G>A , LRG_589t2:c.850G>A	NP_001108225.1:p.Glu284Lys
NM_001278138.1:c.304G>A	NP_001265067.1:p.Glu102Lys
NM_001114753.3:c.850G>A MANE Select	NP_001108225.1:p.Glu284Lys
NM_001278138.2:c.304G>A	NP_001265067.1:p.Glu102Lys