Canonical Allele Identifier: CA10647355

Gene: CFAP119 PHKG2

Linked Data

• ClinVar Variation Id: 318951
• ClinVar RCV Id: RCV000310290
• dbSNP Id: rs886051921
• MyVariant Identifiers: chr16:g.30772297A>G (hg19) ; chr16:g.30760976A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.30760976A>G , CM000678.2:g.30760976A>G	GRCh38
NC_000016.9:g.30772297A>G , CM000678.1:g.30772297A>G	GRCh37
NC_000016.8:g.30679798A>G	NCBI36
NG_016616.1:g.17671A>G
NG_016616.2:g.17678A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000543610.6:c.236+222T>C (CFAP119) MANE Select	ENSP00000437532.1:n.236+222T>C
ENST00000563588.6:c.*3879A>G (PHKG2) MANE Select	ENSP00000455607.1:n.*3879A>G
ENST00000433909.2:n.236+222T>C (CFAP119)
ENST00000541260.5:c.236+222T>C (CFAP119)	ENSP00000457287.1:n.236+222T>C
ENST00000543128.5:n.1024+222T>C (CFAP119)
ENST00000543610.5:c.236+222T>C (CFAP119)	ENSP00000437532.1:n.236+222T>C
ENST00000544487.5:n.1001+222T>C (CFAP119)
ENST00000544643.5:n.786+222T>C (CFAP119)
ENST00000545809.1:c.*126+222T>C (CFAP119)	ENSP00000442648.1:n.*126+222T>C
ENST00000545825.1:c.236+222T>C (CFAP119)	ENSP00000441164.1:n.236+222T>C
ENST00000546006.5:n.653+222T>C (CFAP119)
ENST00000563588.5:c.*3879A>G (PHKG2)	ENSP00000455607.1:n.*3879A>G
NM_000294.2:c.*3872A>G (PHKG2)	NP_000285.1:n.*3872A>G
NM_001014979.2:c.236+222T>C (CFAP119)	NP_001014979.2:n.236+222T>C
NM_001172432.1:c.*816A>G (PHKG2)	NP_001165903.1:n.*816A>G
NM_001195620.1:c.236+222T>C (CFAP119)	NP_001182549.1:n.236+222T>C
XM_011545976.1:c.236+222T>C (CFAP119)	XP_011544278.1:n.236+222T>C
XM_011545977.1:c.125+222T>C (CFAP119)	XP_011544279.1:n.125+222T>C
XM_011545978.1:c.236+222T>C (CFAP119)	XP_011544280.1:n.236+222T>C
XM_011545979.1:c.236+222T>C (CFAP119)	XP_011544281.1:n.236+222T>C
XR_950866.1:n.765+222T>C (CFAP119)
XR_950867.1:n.765+222T>C (CFAP119)
XR_950868.1:n.765+222T>C (CFAP119)
XR_950869.1:n.765+222T>C (CFAP119)
XM_011545976.2:c.236+222T>C (CFAP119)	XP_011544278.1:n.236+222T>C
XM_011545978.2:c.236+222T>C (CFAP119)	XP_011544280.1:n.236+222T>C
XM_017023852.2:c.236+222T>C (CFAP119)	XP_016879341.1:n.236+222T>C
XM_017023853.2:c.236+222T>C (CFAP119)	XP_016879342.1:n.236+222T>C
XM_017023854.2:c.236+222T>C (CFAP119)	XP_016879343.1:n.236+222T>C
XM_017023855.2:c.236+222T>C (CFAP119)	XP_016879344.1:n.236+222T>C
XM_017023856.2:c.125+222T>C (CFAP119)	XP_016879345.1:n.125+222T>C
XM_017023857.2:c.125+222T>C (CFAP119)	XP_016879346.1:n.125+222T>C
XM_017023858.2:c.236+222T>C (CFAP119)	XP_016879347.1:n.236+222T>C
XM_017023859.2:c.236+222T>C (CFAP119)	XP_016879348.1:n.236+222T>C
XM_017023861.2:c.236+222T>C (CFAP119)	XP_016879350.1:n.236+222T>C
XM_017023862.2:c.-419+222T>C (CFAP119)	XP_016879351.1:n.-419+222T>C
XM_024450489.1:c.236+222T>C (CFAP119)	XP_024306257.1:n.236+222T>C
XR_001752021.2:n.760+222T>C (CFAP119)
XR_001752022.2:n.760+222T>C (CFAP119)
XR_001752023.2:n.760+222T>C (CFAP119)
XR_950866.2:n.760+222T>C (CFAP119)
XR_950868.2:n.760+222T>C (CFAP119)
XR_950869.2:n.760+222T>C (CFAP119)
NM_000294.3:c.*3879A>G (PHKG2) MANE Select	NP_000285.1:n.*3879A>G
NM_001014979.3:c.236+222T>C (CFAP119) MANE Select	NP_001014979.2:n.236+222T>C
NM_001172432.2:c.*816A>G (PHKG2)	NP_001165903.1:n.*816A>G
NM_001195620.2:c.236+222T>C (CFAP119)	NP_001182549.1:n.236+222T>C