Canonical Allele Identifier: CA5252632

Gene: ENG

Linked Data

• ClinVar Variation Id: 237024
• ClinVar RCV Id: RCV000233031 ; RCV000414391 ; RCV001169423 ; RCV002408948 ; RCV003221872
• dbSNP Id: rs201768056
• ExAC: 9:130578312 C / T
• gnomAD v2: 9-130578312-C-T
• gnomAD v3: 9-127816033-C-T
• gnomAD v4: 9-127816033-C-T
• MyVariant Identifiers: chr9:g.130578312C>T (hg19) ; chr9:g.127816033C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127816033C>T , CM000671.2:g.127816033C>T	GRCh38
NC_000009.11:g.130578312C>T , CM000671.1:g.130578312C>T	GRCh37
NC_000009.10:g.129618133C>T	NCBI36
NG_009551.1:g.43736G>A , LRG_589:g.43736G>A
NG_023245.1:g.18159C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000480266.6:c.1216G>A	ENSP00000479015.1:p.Val406Ile
ENST00000373203.9:c.1762G>A MANE Select	ENSP00000362299.4:p.Val588Ile
ENST00000344849.4:c.1762G>A	ENSP00000341917.3:p.Val588Ile
ENST00000373203.8:c.1762G>A	ENSP00000362299.4:p.Val588Ile
ENST00000480266.5:c.1216G>A	ENSP00000479015.1:p.Val406Ile
NM_000118.3:c.1762G>A , LRG_589t1:c.1762G>A	NP_000109.1:p.Val588Ile
NM_001114753.2:c.1762G>A , LRG_589t2:c.1762G>A	NP_001108225.1:p.Val588Ile
NM_001278138.1:c.1216G>A	NP_001265067.1:p.Val406Ile
NM_001114753.3:c.1762G>A MANE Select	NP_001108225.1:p.Val588Ile
NM_001278138.2:c.1216G>A	NP_001265067.1:p.Val406Ile