Canonical Allele Identifier: CA10163170

Gene: HPS4

Linked Data

• ClinVar Variation Id: 1397170
• ClinVar RCV Id: RCV001903370
• dbSNP Id: rs770895794
• ExAC: 22:26853898 G / A
• gnomAD v2: 22-26853898-G-A
• gnomAD v3: 22-26457932-G-A
• gnomAD v4: 22-26457932-G-A
• COSMIC: COSM1682169 ; COSM1682170
• MyVariant Identifiers: chr22:g.26853898G>A (hg19) ; chr22:g.26457932G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.26457932G>A , CM000684.2:g.26457932G>A	GRCh38
NC_000022.10:g.26853898G>A , CM000684.1:g.26853898G>A	GRCh37
NC_000022.9:g.25183898G>A	NCBI36
NG_009763.2:g.30932C>T , LRG_590:g.30932C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000422379.3:c.1936C>T	ENSP00000415081.3:p.Arg646Cys
ENST00000473782.2:c.1882C>T	ENSP00000514223.1:p.Arg628Cys
ENST00000483631.2:c.1087C>T	ENSP00000514228.1:p.Arg363Cys
ENST00000491142.2:c.1882C>T	ENSP00000514221.1:p.Arg628Cys
ENST00000699226.1:n.4808C>T
ENST00000699227.1:c.*1226C>T	ENSP00000514220.1:n.*1226C>T
ENST00000699228.1:n.2432C>T
ENST00000699229.1:n.1299C>T
ENST00000699230.1:n.2605C>T
ENST00000699231.1:n.4894C>T
ENST00000699232.1:n.3238C>T
ENST00000699233.1:n.1753C>T
ENST00000699234.1:c.*1226C>T	ENSP00000514222.1:n.*1226C>T
ENST00000699235.1:c.1087C>T	ENSP00000514224.1:p.Arg363Cys
ENST00000699236.1:c.*1071C>T	ENSP00000514225.1:n.*1071C>T
ENST00000699237.1:c.*1071C>T	ENSP00000514226.1:n.*1071C>T
ENST00000699238.1:c.*1425C>T	ENSP00000514227.1:n.*1425C>T
ENST00000699239.1:n.4636C>T
ENST00000699240.1:c.*1539C>T	ENSP00000514229.1:n.*1539C>T
ENST00000699241.1:c.*2074C>T	ENSP00000514230.1:n.*2074C>T
ENST00000699242.1:c.1792C>T	ENSP00000514231.1:p.Arg598Cys
ENST00000699243.1:c.*1226C>T	ENSP00000514232.1:n.*1226C>T
ENST00000699244.1:c.1735C>T	ENSP00000514233.1:p.Arg579Cys
ENST00000699245.1:n.1174C>T
ENST00000699246.1:c.*1253C>T	ENSP00000514234.1:n.*1253C>T
ENST00000699247.1:c.838C>T	ENSP00000514235.1:p.Arg280Cys
ENST00000699248.1:n.3784-4528C>T
ENST00000699249.1:c.*1058-4528C>T	ENSP00000514236.1:n.*1058-4528C>T
ENST00000699250.1:c.1714-4528C>T	ENSP00000514237.1:n.1714-4528C>T
ENST00000699251.1:c.1882C>T	ENSP00000514238.1:p.Arg628Cys
ENST00000699252.1:n.2432C>T
ENST00000398145.7:c.1882C>T MANE Select	ENSP00000381213.2:p.Arg628Cys
ENST00000336873.9:c.1882C>T	ENSP00000338457.5:p.Arg628Cys
ENST00000398145.6:c.1882C>T	ENSP00000381213.2:p.Arg628Cys
ENST00000402105.7:c.1867C>T	ENSP00000384185.3:p.Arg623Cys
ENST00000429411.5:c.*1454C>T	ENSP00000399705.1:n.*1454C>T
ENST00000439453.5:c.*1400C>T	ENSP00000406764.1:n.*1400C>T
ENST00000464362.5:c.*2213C>T	ENSP00000430291.1:n.*2213C>T
ENST00000466781.5:n.4741C>T
ENST00000485842.5:n.573C>T
ENST00000493455.6:n.445C>T
ENST00000496385.5:n.2480-4528C>T
ENST00000519774.5:n.268C>T
NM_022081.5:c.1882C>T , LRG_590t1:c.1882C>T	NP_071364.4:p.Arg628Cys
NM_152841.2:c.1867C>T , LRG_590t2:c.1867C>T	NP_690054.1:p.Arg623Cys
NR_073135.1:n.2568C>T
NR_073136.1:n.2330C>T
XM_006724353.2:c.1936C>T	XP_006724416.1:p.Arg646Cys
XM_006724354.2:c.1936C>T	XP_006724417.1:p.Arg646Cys
XM_006724360.2:c.1369C>T	XP_006724423.1:p.Arg457Cys
XM_011530485.1:c.2014C>T	XP_011528787.1:p.Arg672Cys
XM_011530486.1:c.2014C>T	XP_011528788.1:p.Arg672Cys
XM_011530487.1:c.2014C>T	XP_011528789.1:p.Arg672Cys
XM_011530488.1:c.2014C>T	XP_011528790.1:p.Arg672Cys
XM_011530489.1:c.2014C>T	XP_011528791.1:p.Arg672Cys
XM_011530490.1:c.1960C>T	XP_011528792.1:p.Arg654Cys
XM_011530491.1:c.2014C>T	XP_011528793.1:p.Arg672Cys
XM_011530492.1:c.2014C>T	XP_011528794.1:p.Arg672Cys
XM_011530493.1:c.1846-4528C>T	XP_011528795.1:n.1846-4528C>T
XM_011530494.1:c.1222C>T	XP_011528796.1:p.Arg408Cys
XM_011530495.1:c.1369C>T	XP_011528797.1:p.Arg457Cys
XM_011530496.1:c.1222C>T	XP_011528798.1:p.Arg408Cys
XR_937947.1:n.2673C>T
NM_001349896.1:c.1882C>T	NP_001336825.1:p.Arg628Cys
NM_001349898.1:c.1882C>T	NP_001336827.1:p.Arg628Cys
NM_001349899.1:c.1882C>T	NP_001336828.1:p.Arg628Cys
NM_001349900.1:c.1936C>T	NP_001336829.1:p.Arg646Cys
NM_001349901.1:c.1936C>T	NP_001336830.1:p.Arg646Cys
NM_001349902.1:c.1714-4528C>T	NP_001336831.1:n.1714-4528C>T
NM_001349903.1:c.1714-4528C>T	NP_001336832.1:n.1714-4528C>T
NM_001349904.1:c.1882C>T	NP_001336833.1:p.Arg628Cys
NM_001349905.1:c.1882C>T	NP_001336834.1:p.Arg628Cys
NR_146311.1:n.2659C>T
NR_146312.1:n.2484C>T
NR_146313.1:n.2504C>T
NR_146314.1:n.2635C>T
NR_146315.1:n.2575C>T
NR_146316.1:n.2550C>T
XM_006724360.3:c.1369C>T	XP_006724423.1:p.Arg457Cys
XM_011530485.2:c.2014C>T	XP_011528787.1:p.Arg672Cys
XM_011530486.2:c.2014C>T	XP_011528788.1:p.Arg672Cys
XM_011530487.2:c.2014C>T	XP_011528789.1:p.Arg672Cys
XM_011530488.2:c.2014C>T	XP_011528790.1:p.Arg672Cys
XM_011530489.2:c.2014C>T	XP_011528791.1:p.Arg672Cys
XM_011530490.3:c.1960C>T	XP_011528792.1:p.Arg654Cys
XM_011530491.3:c.2014C>T	XP_011528793.1:p.Arg672Cys
XM_011530492.2:c.2014C>T	XP_011528794.1:p.Arg672Cys
XM_011530493.3:c.1846-4528C>T	XP_011528795.1:n.1846-4528C>T
XM_011530494.2:c.1222C>T	XP_011528796.1:p.Arg408Cys
XM_011530495.2:c.1369C>T	XP_011528797.1:p.Arg457Cys
XM_011530496.2:c.1222C>T	XP_011528798.1:p.Arg408Cys
XM_017029045.2:c.1960C>T	XP_016884534.1:p.Arg654Cys
XM_017029046.2:c.1882C>T	XP_016884535.1:p.Arg628Cys
XM_017029047.2:c.1792-4528C>T	XP_016884536.1:n.1792-4528C>T
XM_017029052.2:c.1474C>T	XP_016884541.1:p.Arg492Cys
XM_017029053.1:c.1459C>T	XP_016884542.1:p.Arg487Cys
XM_017029056.2:c.1087C>T	XP_016884545.1:p.Arg363Cys
XM_017029061.2:c.1087C>T	XP_016884550.1:p.Arg363Cys
XM_017029062.2:c.1087C>T	XP_016884551.1:p.Arg363Cys
XM_017029063.2:c.1087C>T	XP_016884552.1:p.Arg363Cys
XM_017029064.2:c.1087C>T	XP_016884553.1:p.Arg363Cys
XM_024452298.1:c.1255C>T	XP_024308066.1:p.Arg419Cys
XM_024452299.1:c.1087C>T	XP_024308067.1:p.Arg363Cys
XM_024452300.1:c.1087C>T	XP_024308068.1:p.Arg363Cys
XR_001755361.2:n.2590C>T
XR_001755364.1:n.2278-4528C>T
XR_001755366.2:n.3119C>T
XR_002958721.1:n.2500-4528C>T
XR_937947.2:n.2668C>T
NM_001349898.2:c.1882C>T	NP_001336827.1:p.Arg628Cys
NM_001349899.2:c.1882C>T	NP_001336828.1:p.Arg628Cys
NM_001349900.2:c.1936C>T	NP_001336829.1:p.Arg646Cys
NM_001349903.2:c.1714-4528C>T	NP_001336832.1:n.1714-4528C>T
NM_001349904.2:c.1882C>T	NP_001336833.1:p.Arg628Cys
NR_073136.2:n.2137C>T
NR_146311.2:n.2579C>T
NR_146313.2:n.2424C>T
NR_146315.2:n.2495C>T
NM_022081.6:c.1882C>T MANE Select	NP_071364.4:p.Arg628Cys
NR_146316.2:n.2470C>T