Canonical Allele Identifier: CA374977914

Gene: ENG

Linked Data

• ClinVar Variation Id: 528065
• ClinVar RCV Id: RCV000633145 ; RCV001285345 ; RCV002385994 ; RCV003480725
• dbSNP Id: rs1554809363
• MyVariant Identifiers: chr9:g.130581104A>C (hg19) ; chr9:g.127818825A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127818825A>C , CM000671.2:g.127818825A>C	GRCh38
NC_000009.11:g.130581104A>C , CM000671.1:g.130581104A>C	GRCh37
NC_000009.10:g.129620925A>C	NCBI36
NG_009551.1:g.40944T>G , LRG_589:g.40944T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.773T>G	ENSP00000479015.1:p.Val258Gly
ENST00000373203.9:c.1319T>G MANE Select	ENSP00000362299.4:p.Val440Gly
ENST00000344849.4:c.1319T>G	ENSP00000341917.3:p.Val440Gly
ENST00000373203.8:c.1319T>G	ENSP00000362299.4:p.Val440Gly
ENST00000480266.5:c.773T>G	ENSP00000479015.1:p.Val258Gly
NM_000118.3:c.1319T>G , LRG_589t1:c.1319T>G	NP_000109.1:p.Val440Gly
NM_001114753.2:c.1319T>G , LRG_589t2:c.1319T>G	NP_001108225.1:p.Val440Gly
NM_001278138.1:c.773T>G	NP_001265067.1:p.Val258Gly
NR_136302.1:n.1568+114A>C
NM_001114753.3:c.1319T>G MANE Select	NP_001108225.1:p.Val440Gly
NM_001278138.2:c.773T>G	NP_001265067.1:p.Val258Gly