Canonical Allele Identifier: CA374978369

Gene: ENG

Linked Data

• dbSNP Id: rs1157807912
• gnomAD v2: 9-130582207-T-C
• gnomAD v4: 9-127819928-T-C
• MyVariant Identifiers: chr9:g.130582207T>C (hg19) ; chr9:g.127819928T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127819928T>C , CM000671.2:g.127819928T>C	GRCh38
NC_000009.11:g.130582207T>C , CM000671.1:g.130582207T>C	GRCh37
NC_000009.10:g.129622028T>C	NCBI36
NG_009551.1:g.39841A>G , LRG_589:g.39841A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.698A>G	ENSP00000479015.1:p.Gln233Arg
ENST00000373203.9:c.1244A>G MANE Select	ENSP00000362299.4:p.Gln415Arg
ENST00000344849.4:c.1244A>G	ENSP00000341917.3:p.Gln415Arg
ENST00000373203.8:c.1244A>G	ENSP00000362299.4:p.Gln415Arg
ENST00000480266.5:c.698A>G	ENSP00000479015.1:p.Gln233Arg
ENST00000486329.1:n.212A>G
NM_000118.3:c.1244A>G , LRG_589t1:c.1244A>G	NP_000109.1:p.Gln415Arg
NM_001114753.2:c.1244A>G , LRG_589t2:c.1244A>G	NP_001108225.1:p.Gln415Arg
NM_001278138.1:c.698A>G	NP_001265067.1:p.Gln233Arg
NR_136302.1:n.1568+1217T>C
NM_001114753.3:c.1244A>G MANE Select	NP_001108225.1:p.Gln415Arg
NM_001278138.2:c.698A>G	NP_001265067.1:p.Gln233Arg