Canonical Allele Identifier: CA5252953

Gene: ENG

Linked Data

• ClinVar Variation Id: 574807
• ClinVar RCV Id: RCV002233320
• dbSNP Id: rs774709924
• ExAC: 9:130587231 T / C
• gnomAD v2: 9-130587231-T-C
• gnomAD v4: 9-127824952-T-C
• MyVariant Identifiers: chr9:g.130587231T>C (hg19) ; chr9:g.127824952T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127824952T>C , CM000671.2:g.127824952T>C	GRCh38
NC_000009.11:g.130587231T>C , CM000671.1:g.130587231T>C	GRCh37
NC_000009.10:g.129627052T>C	NCBI36
NG_009551.1:g.34817A>G , LRG_589:g.34817A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.293A>G	ENSP00000479015.1:p.Lys98Arg
ENST00000373203.9:c.839A>G MANE Select	ENSP00000362299.4:p.Lys280Arg
ENST00000344849.4:c.839A>G	ENSP00000341917.3:p.Lys280Arg
ENST00000373203.8:c.839A>G	ENSP00000362299.4:p.Lys280Arg
ENST00000480266.5:c.293A>G	ENSP00000479015.1:p.Lys98Arg
NM_000118.3:c.839A>G , LRG_589t1:c.839A>G	NP_000109.1:p.Lys280Arg
NM_001114753.2:c.839A>G , LRG_589t2:c.839A>G	NP_001108225.1:p.Lys280Arg
NM_001278138.1:c.293A>G	NP_001265067.1:p.Lys98Arg
NM_001114753.3:c.839A>G MANE Select	NP_001108225.1:p.Lys280Arg
NM_001278138.2:c.293A>G	NP_001265067.1:p.Lys98Arg