Canonical Allele Identifier: CA374978392

Gene: ENG

Linked Data

• ClinVar Variation Id: 1040195
• ClinVar RCV Id: RCV001343795
• dbSNP Id: rs1830432884
• MyVariant Identifiers: chr9:g.130582217A>C (hg19) ; chr9:g.127819938A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127819938A>C , CM000671.2:g.127819938A>C	GRCh38
NC_000009.11:g.130582217A>C , CM000671.1:g.130582217A>C	GRCh37
NC_000009.10:g.129622038A>C	NCBI36
NG_009551.1:g.39831T>G , LRG_589:g.39831T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.688T>G	ENSP00000479015.1:p.Cys230Gly
ENST00000373203.9:c.1234T>G MANE Select	ENSP00000362299.4:p.Cys412Gly
ENST00000344849.4:c.1234T>G	ENSP00000341917.3:p.Cys412Gly
ENST00000373203.8:c.1234T>G	ENSP00000362299.4:p.Cys412Gly
ENST00000480266.5:c.688T>G	ENSP00000479015.1:p.Cys230Gly
ENST00000486329.1:n.202T>G
NM_000118.3:c.1234T>G , LRG_589t1:c.1234T>G	NP_000109.1:p.Cys412Gly
NM_001114753.2:c.1234T>G , LRG_589t2:c.1234T>G	NP_001108225.1:p.Cys412Gly
NM_001278138.1:c.688T>G	NP_001265067.1:p.Cys230Gly
NR_136302.1:n.1568+1227A>C
NM_001114753.3:c.1234T>G MANE Select	NP_001108225.1:p.Cys412Gly
NM_001278138.2:c.688T>G	NP_001265067.1:p.Cys230Gly