Canonical Allele Identifier: CA340167
Gene: HPS4 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 4125
ClinVar RCV Id: RCV000004341
dbSNP Id: rs119471021

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.26457923G>A , CM000684.2:g.26457923G>A GRCh38
NC_000022.10:g.26853889G>A , CM000684.1:g.26853889G>A GRCh37
NC_000022.9:g.25183889G>A NCBI36
NG_009763.2:g.30941C>T , LRG_590:g.30941C>T

Transcript Alleles

HGVS Amino-acid change
NM_022081.5:c.1891C>T , LRG_590t1:c.1891C>T NP_071364.4:p.Gln631Ter
NM_152841.2:c.1876C>T , LRG_590t2:c.1876C>T NP_690054.1:p.Gln626Ter
NR_073135.1:n.2577C>T
NR_073136.1:n.2339C>T
XM_006724353.2:c.1945C>T XP_006724416.1:p.Gln649Ter
XM_006724354.2:c.1945C>T XP_006724417.1:p.Gln649Ter
XM_006724360.2:c.1378C>T XP_006724423.1:p.Gln460Ter
XM_011530485.1:c.2023C>T XP_011528787.1:p.Gln675Ter
XM_011530486.1:c.2023C>T XP_011528788.1:p.Gln675Ter
XM_011530487.1:c.2023C>T XP_011528789.1:p.Gln675Ter
XM_011530488.1:c.2023C>T XP_011528790.1:p.Gln675Ter
XM_011530489.1:c.2023C>T XP_011528791.1:p.Gln675Ter
XM_011530490.1:c.1969C>T XP_011528792.1:p.Gln657Ter
XM_011530491.1:c.2023C>T XP_011528793.1:p.Gln675Ter
XM_011530492.1:c.2023C>T XP_011528794.1:p.Gln675Ter
XM_011530493.1:c.1846-4519C>T XP_011528795.1:p.=
XM_011530494.1:c.1231C>T XP_011528796.1:p.Gln411Ter
XM_011530495.1:c.1378C>T XP_011528797.1:p.Gln460Ter
XM_011530496.1:c.1231C>T XP_011528798.1:p.Gln411Ter
XR_937947.1:n.2682C>T
NM_001349896.1:c.1891C>T VV NP_001336825.1:p.Gln631Ter
NM_001349898.1:c.1891C>T VV NP_001336827.1:p.Gln631Ter
NM_001349899.1:c.1891C>T VV NP_001336828.1:p.Gln631Ter
NM_001349900.1:c.1945C>T VV NP_001336829.1:p.Gln649Ter
NM_001349901.1:c.1945C>T VV NP_001336830.1:p.Gln649Ter
NM_001349902.1:c.1714-4519C>T VV NP_001336831.1:p.=
NM_001349903.1:c.1714-4519C>T VV NP_001336832.1:p.=
NM_001349904.1:c.1891C>T VV NP_001336833.1:p.Gln631Ter
NM_001349905.1:c.1891C>T VV NP_001336834.1:p.Gln631Ter
NR_146311.1:n.2668C>T
NR_146312.1:n.2493C>T
NR_146313.1:n.2513C>T
NR_146314.1:n.2644C>T
NR_146315.1:n.2584C>T
NR_146316.1:n.2559C>T
XM_006724360.3:c.1378C>T
XM_011530485.2:c.2023C>T
XM_011530486.2:c.2023C>T
XM_011530487.2:c.2023C>T
XM_011530488.2:c.2023C>T
XM_011530489.2:c.2023C>T
XM_011530490.3:c.1969C>T
XM_011530491.3:c.2023C>T
XM_011530492.2:c.2023C>T
XM_011530493.3:c.1846-4519C>T
XM_011530494.2:c.1231C>T
XM_011530495.2:c.1378C>T
XM_011530496.2:c.1231C>T
XM_017029045.2:c.1969C>T XP_016884534.1:p.Gln657Ter
XM_017029046.2:c.1891C>T XP_016884535.1:p.Gln631Ter
XM_017029047.2:c.1792-4519C>T XP_016884536.1:p.=
XM_017029052.2:c.1483C>T XP_016884541.1:p.Gln495Ter
XM_017029053.1:c.1468C>T XP_016884542.1:p.Gln490Ter
XM_017029056.2:c.1096C>T XP_016884545.1:p.Gln366Ter
XM_017029061.2:c.1096C>T XP_016884550.1:p.Gln366Ter
XM_017029062.2:c.1096C>T XP_016884551.1:p.Gln366Ter
XM_017029063.2:c.1096C>T XP_016884552.1:p.Gln366Ter
XM_017029064.2:c.1096C>T XP_016884553.1:p.Gln366Ter
XM_024452298.1:c.1264C>T XP_024308066.1:p.Gln422Ter
XM_024452299.1:c.1096C>T XP_024308067.1:p.Gln366Ter
XM_024452300.1:c.1096C>T XP_024308068.1:p.Gln366Ter
XR_001755361.2:n.2599C>T
XR_001755364.1:n.2278-4519C>T
XR_001755366.2:n.3128C>T
XR_002958721.1:n.2500-4519C>T
XR_937947.2:n.2677C>T
ENST00000336873.9:c.1891C>T ENSP00000338457.5:p.Gln631Ter
ENST00000398145.6:c.1891C>T ENSP00000381213.2:p.Gln631Ter
ENST00000402105.7:c.1876C>T ENSP00000384185.3:p.Gln626Ter
ENST00000429411.5:c.*1463C>T ENSP00000399705.1:p.=
ENST00000439453.5:c.*1409C>T ENSP00000406764.1:p.=
ENST00000464362.5:c.*2222C>T ENSP00000430291.1:p.=
ENST00000466781.5:n.4750C>T
ENST00000485842.5:n.582C>T
ENST00000493455.6:n.454C>T
ENST00000496385.5:n.2480-4519C>T
ENST00000519774.5:n.277C>T