Canonical Allele Identifier: CA414894870
Gene: DKC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 459580
ClinVar RCV Id: RCV000546953
dbSNP Id: rs1248744087

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154773133A>G , CM000685.2:g.154773133A>G GRCh38
NC_000023.10:g.154001408A>G , CM000685.1:g.154001408A>G GRCh37
NC_000023.9:g.153654602A>G NCBI36
NG_009780.1:g.15378A>G , LRG_55:g.15378A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000413910.6:c.919A>G ENSP00000400542.2:p.Ile307Val
ENST00000426673.6:c.*422A>G ENSP00000407253.3:n.*422A>G
ENST00000484317.6:n.824A>G
ENST00000696575.1:c.1039A>G ENSP00000512730.1:p.Ile347Val
ENST00000696577.1:c.1039A>G ENSP00000512731.1:p.Ile347Val
ENST00000696578.1:c.918A>G ENSP00000512732.1:p.Leu306=
ENST00000696579.1:n.1141A>G
ENST00000696580.1:c.952A>G ENSP00000512733.1:p.Ile318Val
ENST00000696581.1:c.*1013A>G ENSP00000512734.1:n.*1013A>G
ENST00000696582.1:c.*245A>G ENSP00000512735.1:n.*245A>G
ENST00000696583.1:c.1000A>G ENSP00000512736.1:p.Ile334Val
ENST00000696584.1:n.1563A>G
ENST00000696585.1:n.1682A>G
ENST00000696586.1:n.1456A>G
ENST00000696587.1:c.919A>G ENSP00000512737.1:p.Ile307Val
ENST00000696588.1:c.430A>G ENSP00000513251.1:p.Ile144Val
ENST00000696589.1:n.814A>G
ENST00000696590.1:n.663A>G
ENST00000696591.1:n.388A>G
ENST00000696592.1:n.1918A>G
ENST00000696627.1:c.1039A>G ENSP00000512764.1:p.Ile347Val
ENST00000696628.1:c.1039A>G ENSP00000512765.1:p.Ile347Val
ENST00000369550.10:c.1039A>G MANE Select ENSP00000358563.5:p.Ile347Val
ENST00000369550.9:c.1039A>G ENSP00000358563.5:p.Ile347Val
ENST00000412124.5:c.297A>G
ENST00000426673.5:c.399A>G
ENST00000475966.1:n.528A>G
ENST00000620277.4:c.1039A>G ENSP00000478387.1:p.Ile347Val
NM_001142463.2:c.1039A>G NP_001135935.1:p.Ile347Val
NM_001288747.1:c.1039A>G NP_001275676.1:p.Ile347Val
NM_001363.4:c.1039A>G NP_001354.1:p.Ile347Val
NR_110021.1:n.1740A>G
NR_110022.1:n.1859A>G
NR_110023.1:n.1633A>G
NM_001363.5:c.1039A>G MANE Select NP_001354.1:p.Ile347Val
NM_001142463.3:c.1039A>G NP_001135935.1:p.Ile347Val
NR_110021.2:n.1618A>G
NR_110022.2:n.1737A>G
NR_110023.2:n.1511A>G
NM_001288747.2:c.1039A>G NP_001275676.1:p.Ile347Val