Canonical Allele Identifier: CA308454092

Gene: ITPKC COQ8B

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.40718993A>C , CM000681.2:g.40718993A>C	GRCh38
NC_000019.9:g.41224898A>C , CM000681.1:g.41224898A>C	GRCh37
NC_000019.8:g.45916738A>C	NCBI36
NG_012970.1:g.6891A>C
NG_027800.1:g.2893T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699488.1:c.1155+703A>C (ITPKC)	ENSP00000514399.1:n.1155+703A>C
ENST00000699489.1:c.1155+703A>C (ITPKC)	ENSP00000514400.1:n.1155+703A>C
ENST00000699490.1:c.1155+703A>C (ITPKC)	ENSP00000514401.1:n.1155+703A>C
ENST00000263370.3:c.1155+703A>C (ITPKC) MANE Select	ENSP00000263370.1:n.1155+703A>C
ENST00000677039.1:n.17-3901T>G (COQ8B)
ENST00000263370.2:c.1155+703A>C (ITPKC)	ENSP00000263370.1:n.1155+703A>C
NM_025194.2:c.1155+703A>C (ITPKC)	NP_079470.1:n.1155+703A>C
XM_006723404.1:c.1155+703A>C (ITPKC)	XP_006723467.1:n.1155+703A>C
XR_243961.1:n.1311+703A>C (ITPKC)
XM_017027324.2:c.306+703A>C (ITPKC)	XP_016882813.1:n.306+703A>C
NM_025194.3:c.1155+703A>C (ITPKC) MANE Select	NP_079470.1:n.1155+703A>C