Canonical Allele Identifier: CA10637609

Gene: CFAP119 PHKG2

Linked Data

• ClinVar Variation Id: 318945
• ClinVar RCV Id: RCV000298132
• dbSNP Id: rs886051916
• gnomAD v2: 16-30769008-G-A
• gnomAD v4: 16-30757687-G-A
• MyVariant Identifiers: chr16:g.30769008G>A (hg19) ; chr16:g.30757687G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.30757687G>A , CM000678.2:g.30757687G>A	GRCh38
NC_000016.9:g.30769008G>A , CM000678.1:g.30769008G>A	GRCh37
NC_000016.8:g.30676509G>A	NCBI36
NG_016616.1:g.14382G>A
NG_016616.2:g.14389G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000543610.6:c.818-33C>T (CFAP119) MANE Select	ENSP00000437532.1:n.818-33C>T
ENST00000563588.6:c.*590G>A (PHKG2) MANE Select	ENSP00000455607.1:n.*590G>A
ENST00000424889.7:c.1083+728G>A (PHKG2)	ENSP00000388571.3:n.1083+728G>A
ENST00000433909.2:n.970-33C>T (CFAP119)
ENST00000535476.6:c.259-33C>T (CFAP119)
ENST00000537986.1:n.277-33C>T (CFAP119)
ENST00000541260.5:c.1013-33C>T (CFAP119)	ENSP00000457287.1:n.1013-33C>T
ENST00000543128.5:n.1606-33C>T (CFAP119)
ENST00000543610.5:c.818-33C>T (CFAP119)	ENSP00000437532.1:n.818-33C>T
ENST00000544487.5:n.1896-33C>T (CFAP119)
ENST00000544613.5:c.324-33C>T (CFAP119)
ENST00000544643.5:n.1529-33C>T (CFAP119)
ENST00000546006.5:n.1302-33C>T (CFAP119)
ENST00000563588.5:c.*590G>A (PHKG2)	ENSP00000455607.1:n.*590G>A
NM_000294.2:c.*583G>A (PHKG2)	NP_000285.1:n.*583G>A
NM_001014979.2:c.818-33C>T (CFAP119)	NP_001014979.2:n.818-33C>T
NM_001172432.1:c.1083+728G>A (PHKG2)	NP_001165903.1:n.1083+728G>A
XM_011545976.1:c.728-33C>T (CFAP119)	XP_011544278.1:n.728-33C>T
XM_011545977.1:c.707-33C>T (CFAP119)	XP_011544279.1:n.707-33C>T
XM_011545978.1:c.573-33C>T (CFAP119)	XP_011544280.1:n.573-33C>T
XM_011545979.1:c.*49-33C>T (CFAP119)	XP_011544281.1:n.*49-33C>T
XR_950866.1:n.1333-33C>T (CFAP119)
XR_950867.1:n.1262-33C>T (CFAP119)
XR_950868.1:n.1276-33C>T (CFAP119)
XR_950869.1:n.1186-33C>T (CFAP119)
XM_011545976.2:c.728-33C>T (CFAP119)	XP_011544278.1:n.728-33C>T
XM_011545978.2:c.573-33C>T (CFAP119)	XP_011544280.1:n.573-33C>T
XM_017023852.2:c.1013-33C>T (CFAP119)	XP_016879341.1:n.1013-33C>T
XM_017023853.2:c.950-33C>T (CFAP119)	XP_016879342.1:n.950-33C>T
XM_017023854.2:c.923-33C>T (CFAP119)	XP_016879343.1:n.923-33C>T
XM_017023855.2:c.917-33C>T (CFAP119)	XP_016879344.1:n.917-33C>T
XM_017023856.2:c.902-33C>T (CFAP119)	XP_016879345.1:n.902-33C>T
XM_017023857.2:c.716-33C>T (CFAP119)	XP_016879346.1:n.716-33C>T
XM_017023858.2:c.853-33C>T (CFAP119)	XP_016879347.1:n.853-33C>T
XM_017023859.2:c.729-33C>T (CFAP119)	XP_016879348.1:n.729-33C>T
XM_017023860.1:c.596-33C>T (CFAP119)	XP_016879349.1:n.596-33C>T
XM_017023861.2:c.*49-33C>T (CFAP119)	XP_016879350.1:n.*49-33C>T
XM_017023862.2:c.500-33C>T (CFAP119)	XP_016879351.1:n.500-33C>T
XR_001752022.2:n.1413-33C>T (CFAP119)
XR_001752023.2:n.1526-33C>T (CFAP119)
XR_950866.2:n.1328-33C>T (CFAP119)
XR_950868.2:n.1271-33C>T (CFAP119)
XR_950869.2:n.1181-33C>T (CFAP119)
NM_000294.3:c.*590G>A (PHKG2) MANE Select	NP_000285.1:n.*590G>A
NM_001014979.3:c.818-33C>T (CFAP119) MANE Select	NP_001014979.2:n.818-33C>T
NM_001172432.2:c.1083+728G>A (PHKG2)	NP_001165903.1:n.1083+728G>A