Canonical Allele Identifier: CA200314448

Gene: ENG

Linked Data

• ClinVar Variation Id: 2043704
• ClinVar RCV Id: RCV002913192
• dbSNP Id: rs994887264
• gnomAD v4: 9-127826536-T-C
• MyVariant Identifiers: chr9:g.130588815T>C (hg19) ; chr9:g.127826536T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127826536T>C , CM000671.2:g.127826536T>C	GRCh38
NC_000009.11:g.130588815T>C , CM000671.1:g.130588815T>C	GRCh37
NC_000009.10:g.129628636T>C	NCBI36
NG_009551.1:g.33233A>G , LRG_589:g.33233A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000480266.6:c.-50A>G	ENSP00000479015.1:n.-50A>G
ENST00000373203.9:c.497A>G MANE Select	ENSP00000362299.4:p.Gln166Arg
ENST00000344849.4:c.497A>G	ENSP00000341917.3:p.Gln166Arg
ENST00000373203.8:c.497A>G	ENSP00000362299.4:p.Gln166Arg
ENST00000462196.1:n.397A>G
ENST00000480266.5:c.-50A>G	ENSP00000479015.1:n.-50A>G
NM_000118.3:c.497A>G , LRG_589t1:c.497A>G	NP_000109.1:p.Gln166Arg
NM_001114753.2:c.497A>G , LRG_589t2:c.497A>G	NP_001108225.1:p.Gln166Arg
NM_001278138.1:c.-50A>G	NP_001265067.1:n.-50A>G
XR_001746952.2:n.82+1078T>C
NM_001114753.3:c.497A>G MANE Select	NP_001108225.1:p.Gln166Arg
NM_001278138.2:c.-50A>G	NP_001265067.1:n.-50A>G