Canonical Allele Identifier: CA633467765

Gene: ITPKC COQ8B

Linked Data

• dbSNP Id: rs28493229
• gnomAD v2: 19-41224204-G-A
• gnomAD v4: 19-40718299-G-A
• MyVariant Identifiers: chr19:g.41224204G>A (hg19) ; chr19:g.40718299G>A (hg38)

Genomic Alleles

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

Transcript Alleles

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