Canonical Allele Identifier: CA5252712

Gene: ENG

Linked Data

• ClinVar Variation Id: 237022
• ClinVar RCV Id: RCV000226902 ; RCV000664173 ; RCV000454429 ; RCV000488732 ; RCV001166478 ; RCV002399808 ; RCV002225526
• dbSNP Id: rs142896669
• ExAC: 9:130580452 C / T
• gnomAD v2: 9-130580452-C-T
• gnomAD v3: 9-127818173-C-T
• gnomAD v4: 9-127818173-C-T
• MyVariant Identifiers: chr9:g.130580452C>T (hg19) ; chr9:g.127818173C>T (hg38)
• ERepo: CA5252712/MONDO:0008535/136
• PubMed: PMID:23298310 ; PMID:26387786

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127818173C>T , CM000671.2:g.127818173C>T	GRCh38
NC_000009.11:g.130580452C>T , CM000671.1:g.130580452C>T	GRCh37
NC_000009.10:g.129620273C>T	NCBI36
NG_009551.1:g.41596G>A , LRG_589:g.41596G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.1087G>A	ENSP00000479015.1:p.Gly363Ser
ENST00000373203.9:c.1633G>A MANE Select	ENSP00000362299.4:p.Gly545Ser
ENST00000344849.4:c.1633G>A	ENSP00000341917.3:p.Gly545Ser
ENST00000373203.8:c.1633G>A	ENSP00000362299.4:p.Gly545Ser
ENST00000480266.5:c.1087G>A	ENSP00000479015.1:p.Gly363Ser
NM_000118.3:c.1633G>A , LRG_589t1:c.1633G>A	NP_000109.1:p.Gly545Ser
NM_001114753.2:c.1633G>A , LRG_589t2:c.1633G>A	NP_001108225.1:p.Gly545Ser
NM_001278138.1:c.1087G>A	NP_001265067.1:p.Gly363Ser
NR_136302.1:n.1378-138C>T
NM_001114753.3:c.1633G>A MANE Select	NP_001108225.1:p.Gly545Ser
NM_001278138.2:c.1087G>A	NP_001265067.1:p.Gly363Ser