Canonical Allele Identifier: CA5252713

Gene: ENG

Linked Data

• ClinVar Variation Id: 696743
• ClinVar RCV Id: RCV003307590
• dbSNP Id: rs117510900
• ExAC: 9:130580453 G / A
• gnomAD v2: 9-130580453-G-A
• gnomAD v3: 9-127818174-G-A
• gnomAD v4: 9-127818174-G-A
• MyVariant Identifiers: chr9:g.130580453G>A (hg19) ; chr9:g.127818174G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127818174G>A , CM000671.2:g.127818174G>A	GRCh38
NC_000009.11:g.130580453G>A , CM000671.1:g.130580453G>A	GRCh37
NC_000009.10:g.129620274G>A	NCBI36
NG_009551.1:g.41595C>T , LRG_589:g.41595C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000480266.6:c.1086C>T	ENSP00000479015.1:p.Thr362=
ENST00000373203.9:c.1632C>T MANE Select	ENSP00000362299.4:p.Thr544=
ENST00000344849.4:c.1632C>T	ENSP00000341917.3:p.Thr544=
ENST00000373203.8:c.1632C>T	ENSP00000362299.4:p.Thr544=
ENST00000480266.5:c.1086C>T	ENSP00000479015.1:p.Thr362=
NM_000118.3:c.1632C>T , LRG_589t1:c.1632C>T	NP_000109.1:p.Thr544=
NM_001114753.2:c.1632C>T , LRG_589t2:c.1632C>T	NP_001108225.1:p.Thr544=
NM_001278138.1:c.1086C>T	NP_001265067.1:p.Thr362=
NR_136302.1:n.1378-137G>A
NM_001114753.3:c.1632C>T MANE Select	NP_001108225.1:p.Thr544=
NM_001278138.2:c.1086C>T	NP_001265067.1:p.Thr362=