Canonical Allele Identifier: CA9450777
Gene: ITPKC HGNC NCBI
COQ8B HGNC NCBI

Linked Data

ClinVar Variation Id: 4277
ClinVar RCV Id: RCV000004498 RCV003974794
dbSNP Id: rs28493229
ExAC: 19:41224204 G / C
gnomAD v2: 19-41224204-G-C
gnomAD v3: 19-40718299-G-C
gnomAD v4: 19-40718299-G-C
MyVariant Identifiers: chr19:g.41224204G>C (hg19) chr19:g.40718299G>C (hg38)
PubMed: PMID:18084290 PMID:20045869
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.40718299G>C , CM000681.2:g.40718299G>C GRCh38
NC_000019.9:g.41224204G>C , CM000681.1:g.41224204G>C GRCh37
NC_000019.8:g.45916044G>C NCBI36
NG_012970.1:g.6197G>C
NG_027800.1:g.3587C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000699488.1:c.1155+9G>C (ITPKC) ENSP00000514399.1:n.1155+9G>C
ENST00000699489.1:c.1155+9G>C (ITPKC) ENSP00000514400.1:n.1155+9G>C
ENST00000699490.1:c.1155+9G>C (ITPKC) ENSP00000514401.1:n.1155+9G>C
ENST00000263370.3:c.1155+9G>C (ITPKC) MANE Select ENSP00000263370.1:n.1155+9G>C
ENST00000677039.1:n.17-3207C>G (COQ8B)
ENST00000263370.2:c.1155+9G>C (ITPKC) ENSP00000263370.1:n.1155+9G>C
NM_025194.2:c.1155+9G>C (ITPKC) NP_079470.1:n.1155+9G>C
XM_006723404.1:c.1155+9G>C (ITPKC) XP_006723467.1:n.1155+9G>C
XR_243961.1:n.1311+9G>C (ITPKC)
XM_017027324.2:c.306+9G>C (ITPKC) XP_016882813.1:n.306+9G>C
NM_025194.3:c.1155+9G>C (ITPKC) MANE Select NP_079470.1:n.1155+9G>C
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