Canonical Allele Identifier: CA5252894
Gene: ENG HGNC NCBI

Linked Data

ClinVar Variation Id: 1439555
ClinVar RCV Id: RCV001965332
dbSNP Id: rs150829904

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127824398T>C , CM000671.2:g.127824398T>C GRCh38
NC_000009.11:g.130586677T>C , CM000671.1:g.130586677T>C GRCh37
NC_000009.10:g.129626498T>C NCBI36
NG_009551.1:g.35371A>G , LRG_589:g.35371A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000480266.6:c.494A>G ENSP00000479015.1:p.Lys165Arg
ENST00000373203.9:c.1040A>G MANE Select ENSP00000362299.4:p.Lys347Arg
ENST00000344849.4:c.1040A>G ENSP00000341917.3:p.Lys347Arg
ENST00000373203.8:c.1040A>G ENSP00000362299.4:p.Lys347Arg
ENST00000480266.5:c.494A>G ENSP00000479015.1:p.Lys165Arg
ENST00000486329.1:n.8A>G
NM_000118.3:c.1040A>G , LRG_589t1:c.1040A>G NP_000109.1:p.Lys347Arg
NM_001114753.2:c.1040A>G , LRG_589t2:c.1040A>G NP_001108225.1:p.Lys347Arg
NM_001278138.1:c.494A>G NP_001265067.1:p.Lys165Arg
NM_001114753.3:c.1040A>G MANE Select NP_001108225.1:p.Lys347Arg
NM_001278138.2:c.494A>G NP_001265067.1:p.Lys165Arg