Canonical Allele Identifier: CA411027296

Gene: HPS4

Linked Data

• ClinVar Variation Id: 2772830
• ClinVar RCV Id: RCV003576883
• gnomAD v4: 22-26464306-G-C
• MyVariant Identifiers: chr22:g.26860272G>C (hg19) ; chr22:g.26464306G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.26464306G>C , CM000684.2:g.26464306G>C	GRCh38
NC_000022.10:g.26860272G>C , CM000684.1:g.26860272G>C	GRCh37
NC_000022.9:g.25190272G>C	NCBI36
NG_009763.2:g.24558C>G , LRG_590:g.24558C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000422379.3:c.1378C>G	ENSP00000415081.3:p.Gln460Glu
ENST00000473782.2:c.1324C>G	ENSP00000514223.1:p.Gln442Glu
ENST00000483631.2:c.529C>G	ENSP00000514228.1:p.Gln177Glu
ENST00000491142.2:c.1324C>G	ENSP00000514221.1:p.Gln442Glu
ENST00000699226.1:n.4250C>G
ENST00000699227.1:c.*668C>G	ENSP00000514220.1:n.*668C>G
ENST00000699228.1:n.1874C>G
ENST00000699229.1:n.741C>G
ENST00000699230.1:n.2047C>G
ENST00000699231.1:n.4336C>G
ENST00000699232.1:n.2680C>G
ENST00000699233.1:n.1195C>G
ENST00000699234.1:c.*668C>G	ENSP00000514222.1:n.*668C>G
ENST00000699235.1:c.529C>G	ENSP00000514224.1:p.Gln177Glu
ENST00000699236.1:c.*513C>G	ENSP00000514225.1:n.*513C>G
ENST00000699237.1:c.*513C>G	ENSP00000514226.1:n.*513C>G
ENST00000699238.1:c.*867C>G	ENSP00000514227.1:n.*867C>G
ENST00000699239.1:n.4078C>G
ENST00000699240.1:c.*981C>G	ENSP00000514229.1:n.*981C>G
ENST00000699241.1:c.*1516C>G	ENSP00000514230.1:n.*1516C>G
ENST00000699242.1:c.1234C>G	ENSP00000514231.1:p.Gln412Glu
ENST00000699243.1:c.*668C>G	ENSP00000514232.1:n.*668C>G
ENST00000699244.1:c.1177C>G	ENSP00000514233.1:p.Gln393Glu
ENST00000699246.1:c.*695C>G	ENSP00000514234.1:n.*695C>G
ENST00000699247.1:c.669+4245C>G	ENSP00000514235.1:n.669+4245C>G
ENST00000699248.1:n.3394C>G
ENST00000699249.1:c.*668C>G	ENSP00000514236.1:n.*668C>G
ENST00000699250.1:c.1324C>G	ENSP00000514237.1:p.Gln442Glu
ENST00000699251.1:c.1324C>G	ENSP00000514238.1:p.Gln442Glu
ENST00000699252.1:n.1874C>G
ENST00000398145.7:c.1324C>G MANE Select	ENSP00000381213.2:p.Gln442Glu
ENST00000336873.9:c.1324C>G	ENSP00000338457.5:p.Gln442Glu
ENST00000398145.6:c.1324C>G	ENSP00000381213.2:p.Gln442Glu
ENST00000402105.7:c.1309C>G	ENSP00000384185.3:p.Gln437Glu
ENST00000422379.2:c.1378C>G	ENSP00000415081.2:p.Gln460Glu
ENST00000429411.5:c.*896C>G	ENSP00000399705.1:n.*896C>G
ENST00000439453.5:c.*842C>G	ENSP00000406764.1:n.*842C>G
ENST00000464362.5:c.*1655C>G	ENSP00000430291.1:n.*1655C>G
ENST00000466781.5:n.4183C>G
ENST00000485842.5:n.404+4245C>G
ENST00000496385.5:n.2090C>G
NM_022081.5:c.1324C>G , LRG_590t1:c.1324C>G	NP_071364.4:p.Gln442Glu
NM_152841.2:c.1309C>G , LRG_590t2:c.1309C>G	NP_690054.1:p.Gln437Glu
NR_073135.1:n.2010C>G
NR_073136.1:n.1772C>G
XM_006724353.2:c.1378C>G	XP_006724416.1:p.Gln460Glu
XM_006724354.2:c.1378C>G	XP_006724417.1:p.Gln460Glu
XM_006724360.2:c.811C>G	XP_006724423.1:p.Gln271Glu
XM_011530485.1:c.1456C>G	XP_011528787.1:p.Gln486Glu
XM_011530486.1:c.1456C>G	XP_011528788.1:p.Gln486Glu
XM_011530487.1:c.1456C>G	XP_011528789.1:p.Gln486Glu
XM_011530488.1:c.1456C>G	XP_011528790.1:p.Gln486Glu
XM_011530489.1:c.1456C>G	XP_011528791.1:p.Gln486Glu
XM_011530490.1:c.1402C>G	XP_011528792.1:p.Gln468Glu
XM_011530491.1:c.1456C>G	XP_011528793.1:p.Gln486Glu
XM_011530492.1:c.1456C>G	XP_011528794.1:p.Gln486Glu
XM_011530493.1:c.1456C>G	XP_011528795.1:p.Gln486Glu
XM_011530494.1:c.664C>G	XP_011528796.1:p.Gln222Glu
XM_011530495.1:c.811C>G	XP_011528797.1:p.Gln271Glu
XM_011530496.1:c.664C>G	XP_011528798.1:p.Gln222Glu
XR_937947.1:n.2115C>G
NM_001349896.1:c.1324C>G	NP_001336825.1:p.Gln442Glu
NM_001349898.1:c.1324C>G	NP_001336827.1:p.Gln442Glu
NM_001349899.1:c.1324C>G	NP_001336828.1:p.Gln442Glu
NM_001349900.1:c.1378C>G	NP_001336829.1:p.Gln460Glu
NM_001349901.1:c.1378C>G	NP_001336830.1:p.Gln460Glu
NM_001349902.1:c.1324C>G	NP_001336831.1:p.Gln442Glu
NM_001349903.1:c.1324C>G	NP_001336832.1:p.Gln442Glu
NM_001349904.1:c.1324C>G	NP_001336833.1:p.Gln442Glu
NM_001349905.1:c.1324C>G	NP_001336834.1:p.Gln442Glu
NR_146311.1:n.2101C>G
NR_146312.1:n.1926C>G
NR_146313.1:n.1946C>G
NR_146314.1:n.2077C>G
NR_146315.1:n.2017C>G
NR_146316.1:n.1992C>G
XM_006724360.3:c.811C>G	XP_006724423.1:p.Gln271Glu
XM_011530485.2:c.1456C>G	XP_011528787.1:p.Gln486Glu
XM_011530486.2:c.1456C>G	XP_011528788.1:p.Gln486Glu
XM_011530487.2:c.1456C>G	XP_011528789.1:p.Gln486Glu
XM_011530488.2:c.1456C>G	XP_011528790.1:p.Gln486Glu
XM_011530489.2:c.1456C>G	XP_011528791.1:p.Gln486Glu
XM_011530490.3:c.1402C>G	XP_011528792.1:p.Gln468Glu
XM_011530491.3:c.1456C>G	XP_011528793.1:p.Gln486Glu
XM_011530492.2:c.1456C>G	XP_011528794.1:p.Gln486Glu
XM_011530493.3:c.1456C>G	XP_011528795.1:p.Gln486Glu
XM_011530494.2:c.664C>G	XP_011528796.1:p.Gln222Glu
XM_011530495.2:c.811C>G	XP_011528797.1:p.Gln271Glu
XM_011530496.2:c.664C>G	XP_011528798.1:p.Gln222Glu
XM_017029045.2:c.1402C>G	XP_016884534.1:p.Gln468Glu
XM_017029046.2:c.1324C>G	XP_016884535.1:p.Gln442Glu
XM_017029047.2:c.1402C>G	XP_016884536.1:p.Gln468Glu
XM_017029052.2:c.916C>G	XP_016884541.1:p.Gln306Glu
XM_017029053.1:c.901C>G	XP_016884542.1:p.Gln301Glu
XM_017029056.2:c.529C>G	XP_016884545.1:p.Gln177Glu
XM_017029061.2:c.529C>G	XP_016884550.1:p.Gln177Glu
XM_017029062.2:c.529C>G	XP_016884551.1:p.Gln177Glu
XM_017029063.2:c.529C>G	XP_016884552.1:p.Gln177Glu
XM_017029064.2:c.529C>G	XP_016884553.1:p.Gln177Glu
XM_024452298.1:c.697C>G	XP_024308066.1:p.Gln233Glu
XM_024452299.1:c.529C>G	XP_024308067.1:p.Gln177Glu
XM_024452300.1:c.529C>G	XP_024308068.1:p.Gln177Glu
XR_001755361.2:n.2032C>G
XR_001755364.1:n.1888C>G
XR_001755366.2:n.2561C>G
XR_002958721.1:n.2110C>G
XR_937947.2:n.2110C>G
NM_001349898.2:c.1324C>G	NP_001336827.1:p.Gln442Glu
NM_001349899.2:c.1324C>G	NP_001336828.1:p.Gln442Glu
NM_001349900.2:c.1378C>G	NP_001336829.1:p.Gln460Glu
NM_001349903.2:c.1324C>G	NP_001336832.1:p.Gln442Glu
NM_001349904.2:c.1324C>G	NP_001336833.1:p.Gln442Glu
NR_073136.2:n.1579C>G
NR_146311.2:n.2021C>G
NR_146313.2:n.1866C>G
NR_146315.2:n.1937C>G
NM_022081.6:c.1324C>G MANE Select	NP_071364.4:p.Gln442Glu
NR_146316.2:n.1912C>G