Canonical Allele Identifier: CA374983528
Gene: ENG HGNC NCBI

Linked Data

ClinVar Variation Id: 435060
ClinVar RCV Id: RCV000500817 RCV000633131 RCV001565138 RCV002367686 RCV004551628
dbSNP Id: rs1554810378
MyVariant Identifiers: chr9:g.130588001A>G (hg19) chr9:g.127825722A>G (hg38)
ERepo: CA374983528/MONDO:0008535/136
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127825722A>G , CM000671.2:g.127825722A>G GRCh38
NC_000009.11:g.130588001A>G , CM000671.1:g.130588001A>G GRCh37
NC_000009.10:g.129627822A>G NCBI36
NG_009551.1:g.34047T>C , LRG_589:g.34047T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000480266.6:c.116T>C ENSP00000479015.1:p.Leu39Pro
ENST00000373203.9:c.662T>C MANE Select ENSP00000362299.4:p.Leu221Pro
ENST00000344849.4:c.662T>C ENSP00000341917.3:p.Leu221Pro
ENST00000373203.8:c.662T>C ENSP00000362299.4:p.Leu221Pro
ENST00000480266.5:c.116T>C ENSP00000479015.1:p.Leu39Pro
NM_000118.3:c.662T>C , LRG_589t1:c.662T>C NP_000109.1:p.Leu221Pro
NM_001114753.2:c.662T>C , LRG_589t2:c.662T>C NP_001108225.1:p.Leu221Pro
NM_001278138.1:c.116T>C NP_001265067.1:p.Leu39Pro
XR_001746952.2:n.82+264A>G
NM_001114753.3:c.662T>C MANE Select NP_001108225.1:p.Leu221Pro
NM_001278138.2:c.116T>C NP_001265067.1:p.Leu39Pro
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