Canonical Allele Identifier: CA374982520

Gene: ENG

Linked Data

• ClinVar Variation Id: 1061804
• ClinVar RCV Id: RCV001371452 ; RCV002488170 ; RCV003405621
• dbSNP Id: rs1830569895
• gnomAD v4: 9-127824902-G-C
• MyVariant Identifiers: chr9:g.130587181G>C (hg19) ; chr9:g.127824902G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127824902G>C , CM000671.2:g.127824902G>C	GRCh38
NC_000009.11:g.130587181G>C , CM000671.1:g.130587181G>C	GRCh37
NC_000009.10:g.129627002G>C	NCBI36
NG_009551.1:g.34867C>G , LRG_589:g.34867C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.343C>G	ENSP00000479015.1:p.Gln115Glu
ENST00000373203.9:c.889C>G MANE Select	ENSP00000362299.4:p.Gln297Glu
ENST00000344849.4:c.889C>G	ENSP00000341917.3:p.Gln297Glu
ENST00000373203.8:c.889C>G	ENSP00000362299.4:p.Gln297Glu
ENST00000480266.5:c.343C>G	ENSP00000479015.1:p.Gln115Glu
NM_000118.3:c.889C>G , LRG_589t1:c.889C>G	NP_000109.1:p.Gln297Glu
NM_001114753.2:c.889C>G , LRG_589t2:c.889C>G	NP_001108225.1:p.Gln297Glu
NM_001278138.1:c.343C>G	NP_001265067.1:p.Gln115Glu
NM_001114753.3:c.889C>G MANE Select	NP_001108225.1:p.Gln297Glu
NM_001278138.2:c.343C>G	NP_001265067.1:p.Gln115Glu