Canonical Allele Identifier: CA374982466

Gene: ENG

Linked Data

• ClinVar Variation Id: 982483
• ClinVar RCV Id: RCV001262076 ; RCV001880033
• dbSNP Id: rs1830569662
• MyVariant Identifiers: chr9:g.130587174A>C (hg19) ; chr9:g.127824895A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127824895A>C , CM000671.2:g.127824895A>C	GRCh38
NC_000009.11:g.130587174A>C , CM000671.1:g.130587174A>C	GRCh37
NC_000009.10:g.129626995A>C	NCBI36
NG_009551.1:g.34874T>G , LRG_589:g.34874T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000480266.6:c.350T>G	ENSP00000479015.1:p.Leu117Arg
ENST00000373203.9:c.896T>G MANE Select	ENSP00000362299.4:p.Leu299Arg
ENST00000344849.4:c.896T>G	ENSP00000341917.3:p.Leu299Arg
ENST00000373203.8:c.896T>G	ENSP00000362299.4:p.Leu299Arg
ENST00000480266.5:c.350T>G	ENSP00000479015.1:p.Leu117Arg
NM_000118.3:c.896T>G , LRG_589t1:c.896T>G	NP_000109.1:p.Leu299Arg
NM_001114753.2:c.896T>G , LRG_589t2:c.896T>G	NP_001108225.1:p.Leu299Arg
NM_001278138.1:c.350T>G	NP_001265067.1:p.Leu117Arg
NM_001114753.3:c.896T>G MANE Select	NP_001108225.1:p.Leu299Arg
NM_001278138.2:c.350T>G	NP_001265067.1:p.Leu117Arg