Canonical Allele Identifier: CA8041007

Gene: PHKB

Linked Data

• ClinVar Variation Id: 1924320
• ClinVar RCV Id: RCV002609541
• dbSNP Id: rs747479623
• ExAC: 16:47684749 C / T
• gnomAD v2: 16-47684749-C-T
• gnomAD v4: 16-47650838-C-T
• MyVariant Identifiers: chr16:g.47684749C>T (hg19) ; chr16:g.47650838C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.47650838C>T , CM000678.2:g.47650838C>T	GRCh38
NC_000016.9:g.47684749C>T , CM000678.1:g.47684749C>T	GRCh37
NC_000016.8:g.46242250C>T	NCBI36
NG_016598.1:g.194540C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000696809.1:c.*462C>T	ENSP00000512887.1:n.*462C>T
ENST00000699276.1:c.1867C>T	ENSP00000514257.1:p.Arg623Trp
ENST00000323584.10:c.1888C>T MANE Select	ENSP00000313504.5:p.Arg630Trp
ENST00000299167.12:c.1888C>T	ENSP00000299167.8:p.Arg630Trp
ENST00000323584.9:c.1888C>T	ENSP00000313504.5:p.Arg630Trp
ENST00000566044.5:c.1867C>T	ENSP00000456729.1:p.Arg623Trp
ENST00000568171.1:n.9C>T
NM_000293.2:c.1888C>T	NP_000284.1:p.Arg630Trp
NM_001031835.2:c.1867C>T	NP_001027005.1:p.Arg623Trp
XM_005255983.3:c.1888C>T	XP_005256040.1:p.Arg630Trp
XM_005255984.3:c.1867C>T	XP_005256041.1:p.Arg623Trp
XM_011523106.1:c.1888C>T	XP_011521408.1:p.Arg630Trp
XM_011523107.1:c.466C>T	XP_011521409.1:p.Arg156Trp
NM_001363837.1:c.1888C>T	NP_001350766.1:p.Arg630Trp
XM_005255983.4:c.1888C>T	XP_005256040.1:p.Arg630Trp
XM_005255984.4:c.1867C>T	XP_005256041.1:p.Arg623Trp
XM_017023282.1:c.775C>T	XP_016878771.1:p.Arg259Trp
XM_017023283.1:c.466C>T	XP_016878772.1:p.Arg156Trp
XM_017023284.1:c.466C>T	XP_016878773.1:p.Arg156Trp
XR_001751913.1:n.1903C>T
NM_000293.3:c.1888C>T MANE Select	NP_000284.1:p.Arg630Trp
NM_001031835.3:c.1867C>T	NP_001027005.1:p.Arg623Trp