Canonical Allele Identifier: CA10643470

Gene: CFAP119 PHKG2

Linked Data

• ClinVar Variation Id: 318948
• ClinVar RCV Id: RCV000313569
• dbSNP Id: rs886051918
• gnomAD v2: 16-30770572-G-A
• gnomAD v3: 16-30759251-G-A
• gnomAD v4: 16-30759251-G-A
• MyVariant Identifiers: chr16:g.30770572G>A (hg19) ; chr16:g.30759251G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.30759251G>A , CM000678.2:g.30759251G>A	GRCh38
NC_000016.9:g.30770572G>A , CM000678.1:g.30770572G>A	GRCh37
NC_000016.8:g.30678073G>A	NCBI36
NG_016616.1:g.15946G>A
NG_016616.2:g.15953G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000543610.6:c.658-4C>T (CFAP119) MANE Select	ENSP00000437532.1:n.658-4C>T
ENST00000563588.6:c.*2154G>A (PHKG2) MANE Select	ENSP00000455607.1:n.*2154G>A
ENST00000424889.7:c.1084-868G>A (PHKG2)	ENSP00000388571.3:n.1084-868G>A
ENST00000433909.2:n.810-4C>T (CFAP119)
ENST00000535476.6:c.189-4C>T (CFAP119)
ENST00000537986.1:n.276+1033C>T (CFAP119)
ENST00000541260.5:c.853-4C>T (CFAP119)	ENSP00000457287.1:n.853-4C>T
ENST00000543128.5:n.1446-4C>T (CFAP119)
ENST00000543610.5:c.658-4C>T (CFAP119)	ENSP00000437532.1:n.658-4C>T
ENST00000544487.5:n.1660-4C>T (CFAP119)
ENST00000544613.5:c.254-4C>T (CFAP119)
ENST00000544643.5:n.1459-4C>T (CFAP119)
ENST00000546006.5:n.1142-4C>T (CFAP119)
ENST00000563588.5:c.*2154G>A (PHKG2)	ENSP00000455607.1:n.*2154G>A
NM_000294.2:c.*2147G>A (PHKG2)	NP_000285.1:n.*2147G>A
NM_001014979.2:c.658-4C>T (CFAP119)	NP_001014979.2:n.658-4C>T
NM_001172432.1:c.1084-868G>A (PHKG2)	NP_001165903.1:n.1084-868G>A
XM_011545976.1:c.658-4C>T (CFAP119)	XP_011544278.1:n.658-4C>T
XM_011545977.1:c.547-4C>T (CFAP119)	XP_011544279.1:n.547-4C>T
XM_011545978.1:c.572+91C>T (CFAP119)	XP_011544280.1:n.572+91C>T
XM_011545979.1:c.573-4C>T (CFAP119)	XP_011544281.1:n.573-4C>T
XR_950866.1:n.1173-4C>T (CFAP119)
XR_950867.1:n.1102-4C>T (CFAP119)
XR_950868.1:n.1116-4C>T (CFAP119)
XR_950869.1:n.1116-4C>T (CFAP119)
XM_011545976.2:c.658-4C>T (CFAP119)	XP_011544278.1:n.658-4C>T
XM_011545978.2:c.572+91C>T (CFAP119)	XP_011544280.1:n.572+91C>T
XM_017023852.2:c.853-4C>T (CFAP119)	XP_016879341.1:n.853-4C>T
XM_017023853.2:c.790-4C>T (CFAP119)	XP_016879342.1:n.790-4C>T
XM_017023854.2:c.853-4C>T (CFAP119)	XP_016879343.1:n.853-4C>T
XM_017023855.2:c.757-4C>T (CFAP119)	XP_016879344.1:n.757-4C>T
XM_017023856.2:c.742-4C>T (CFAP119)	XP_016879345.1:n.742-4C>T
XM_017023857.2:c.646-4C>T (CFAP119)	XP_016879346.1:n.646-4C>T
XM_017023858.2:c.852+91C>T (CFAP119)	XP_016879347.1:n.852+91C>T
XM_017023859.2:c.728+91C>T (CFAP119)	XP_016879348.1:n.728+91C>T
XM_017023860.1:c.436-4C>T (CFAP119)	XP_016879349.1:n.436-4C>T
XM_017023861.2:c.729-4C>T (CFAP119)	XP_016879350.1:n.729-4C>T
XM_017023862.2:c.340-4C>T (CFAP119)	XP_016879351.1:n.340-4C>T
XM_024450489.1:c.*20-4C>T (CFAP119)	XP_024306257.1:n.*20-4C>T
XR_001752021.2:n.1462-4C>T (CFAP119)
XR_001752022.2:n.1253-4C>T (CFAP119)
XR_001752023.2:n.1366-4C>T (CFAP119)
XR_950866.2:n.1168-4C>T (CFAP119)
XR_950868.2:n.1111-4C>T (CFAP119)
XR_950869.2:n.1111-4C>T (CFAP119)
NM_000294.3:c.*2154G>A (PHKG2) MANE Select	NP_000285.1:n.*2154G>A
NM_001014979.3:c.658-4C>T (CFAP119) MANE Select	NP_001014979.2:n.658-4C>T
NM_001172432.2:c.1084-868G>A (PHKG2)	NP_001165903.1:n.1084-868G>A