Canonical Allele Identifier: CA374985867

Gene: ENG

Linked Data

• ClinVar Variation Id: 2735350
• ClinVar RCV Id: RCV003593377
• MyVariant Identifiers: chr9:g.130592006A>C (hg19) ; chr9:g.127829727A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127829727A>C , CM000671.2:g.127829727A>C	GRCh38
NC_000009.11:g.130592006A>C , CM000671.1:g.130592006A>C	GRCh37
NC_000009.10:g.129631827A>C	NCBI36
NG_009551.1:g.30042T>G , LRG_589:g.30042T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.-227T>G	ENSP00000479015.1:n.-227T>G
ENST00000373203.9:c.320T>G MANE Select	ENSP00000362299.4:p.Leu107Arg
ENST00000344849.4:c.320T>G	ENSP00000341917.3:p.Leu107Arg
ENST00000373203.8:c.320T>G	ENSP00000362299.4:p.Leu107Arg
ENST00000462196.1:n.78T>G
ENST00000480266.5:c.-227T>G	ENSP00000479015.1:n.-227T>G
NM_000118.3:c.320T>G , LRG_589t1:c.320T>G	NP_000109.1:p.Leu107Arg
NM_001114753.2:c.320T>G , LRG_589t2:c.320T>G	NP_001108225.1:p.Leu107Arg
NM_001278138.1:c.-227T>G	NP_001265067.1:n.-227T>G
XR_001746952.2:n.83-2671A>C
NM_001114753.3:c.320T>G MANE Select	NP_001108225.1:p.Leu107Arg
NM_001278138.2:c.-227T>G	NP_001265067.1:n.-227T>G