Canonical Allele Identifier: CA467474506

Gene: ENG

Linked Data

• ClinVar Variation Id: 2717902
• ClinVar RCV Id: RCV003595246
• dbSNP Id: rs1326050845
• gnomAD v2: 9-130578295-C-T
• gnomAD v3: 9-127816016-C-T
• gnomAD v4: 9-127816016-C-T
• MyVariant Identifiers: chr9:g.130578295C>T (hg19) ; chr9:g.127816016C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127816016C>T , CM000671.2:g.127816016C>T	GRCh38
NC_000009.11:g.130578295C>T , CM000671.1:g.130578295C>T	GRCh37
NC_000009.10:g.129618116C>T	NCBI36
NG_009551.1:g.43753G>A , LRG_589:g.43753G>A
NG_023245.1:g.18142C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.1233G>A	ENSP00000479015.1:p.Leu411=
ENST00000373203.9:c.1779G>A MANE Select	ENSP00000362299.4:p.Leu593=
ENST00000344849.4:c.1779G>A	ENSP00000341917.3:p.Leu593=
ENST00000373203.8:c.1779G>A	ENSP00000362299.4:p.Leu593=
ENST00000480266.5:c.1233G>A	ENSP00000479015.1:p.Leu411=
NM_000118.3:c.1779G>A , LRG_589t1:c.1779G>A	NP_000109.1:p.Leu593=
NM_001114753.2:c.1779G>A , LRG_589t2:c.1779G>A	NP_001108225.1:p.Leu593=
NM_001278138.1:c.1233G>A	NP_001265067.1:p.Leu411=
NM_001114753.3:c.1779G>A MANE Select	NP_001108225.1:p.Leu593=
NM_001278138.2:c.1233G>A	NP_001265067.1:p.Leu411=