Canonical Allele Identifier: CA5252632
Gene: ENG HGNC NCBI

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)
ERepo: CA5252632/MONDO:0008535/136
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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
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