Canonical Allele Identifier: CA411024045

Gene: HPS4

Linked Data

• dbSNP Id: rs1894704
• gnomAD v4: 22-26457939-C-G
• MyVariant Identifiers: chr22:g.26853905C>G (hg19) ; chr22:g.26457939C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.26457939C>G , CM000684.2:g.26457939C>G	GRCh38
NC_000022.10:g.26853905C>G , CM000684.1:g.26853905C>G	GRCh37
NC_000022.9:g.25183905C>G	NCBI36
NG_009763.2:g.30925G>C , LRG_590:g.30925G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000422379.3:c.1929G>C	ENSP00000415081.3:p.Gln643His
ENST00000473782.2:c.1875G>C	ENSP00000514223.1:p.Gln625His
ENST00000483631.2:c.1080G>C	ENSP00000514228.1:p.Gln360His
ENST00000491142.2:c.1875G>C	ENSP00000514221.1:p.Gln625His
ENST00000699226.1:n.4801G>C
ENST00000699227.1:c.*1219G>C	ENSP00000514220.1:n.*1219G>C
ENST00000699228.1:n.2425G>C
ENST00000699229.1:n.1292G>C
ENST00000699230.1:n.2598G>C
ENST00000699231.1:n.4887G>C
ENST00000699232.1:n.3231G>C
ENST00000699233.1:n.1746G>C
ENST00000699234.1:c.*1219G>C	ENSP00000514222.1:n.*1219G>C
ENST00000699235.1:c.1080G>C	ENSP00000514224.1:p.Gln360His
ENST00000699236.1:c.*1064G>C	ENSP00000514225.1:n.*1064G>C
ENST00000699237.1:c.*1064G>C	ENSP00000514226.1:n.*1064G>C
ENST00000699238.1:c.*1418G>C	ENSP00000514227.1:n.*1418G>C
ENST00000699239.1:n.4629G>C
ENST00000699240.1:c.*1532G>C	ENSP00000514229.1:n.*1532G>C
ENST00000699241.1:c.*2067G>C	ENSP00000514230.1:n.*2067G>C
ENST00000699242.1:c.1785G>C	ENSP00000514231.1:p.Gln595His
ENST00000699243.1:c.*1219G>C	ENSP00000514232.1:n.*1219G>C
ENST00000699244.1:c.1728G>C	ENSP00000514233.1:p.Gln576His
ENST00000699245.1:n.1167G>C
ENST00000699246.1:c.*1246G>C	ENSP00000514234.1:n.*1246G>C
ENST00000699247.1:c.831G>C	ENSP00000514235.1:p.Gln277His
ENST00000699248.1:n.3784-4535G>C
ENST00000699249.1:c.*1058-4535G>C	ENSP00000514236.1:n.*1058-4535G>C
ENST00000699250.1:c.1714-4535G>C	ENSP00000514237.1:n.1714-4535G>C
ENST00000699251.1:c.1875G>C	ENSP00000514238.1:p.Gln625His
ENST00000699252.1:n.2425G>C
ENST00000398145.7:c.1875G>C MANE Select	ENSP00000381213.2:p.Gln625His
ENST00000336873.9:c.1875G>C	ENSP00000338457.5:p.Gln625His
ENST00000398145.6:c.1875G>C	ENSP00000381213.2:p.Gln625His
ENST00000402105.7:c.1860G>C	ENSP00000384185.3:p.Gln620His
ENST00000429411.5:c.*1447G>C	ENSP00000399705.1:n.*1447G>C
ENST00000439453.5:c.*1393G>C	ENSP00000406764.1:n.*1393G>C
ENST00000464362.5:c.*2206G>C	ENSP00000430291.1:n.*2206G>C
ENST00000466781.5:n.4734G>C
ENST00000485842.5:n.566G>C
ENST00000493455.6:n.438G>C
ENST00000496385.5:n.2480-4535G>C
ENST00000519774.5:n.261G>C
NM_022081.5:c.1875G>C , LRG_590t1:c.1875G>C	NP_071364.4:p.Gln625His
NM_152841.2:c.1860G>C , LRG_590t2:c.1860G>C	NP_690054.1:p.Gln620His
NR_073135.1:n.2561G>C
NR_073136.1:n.2323G>C
XM_006724353.2:c.1929G>C	XP_006724416.1:p.Gln643His
XM_006724354.2:c.1929G>C	XP_006724417.1:p.Gln643His
XM_006724360.2:c.1362G>C	XP_006724423.1:p.Gln454His
XM_011530485.1:c.2007G>C	XP_011528787.1:p.Gln669His
XM_011530486.1:c.2007G>C	XP_011528788.1:p.Gln669His
XM_011530487.1:c.2007G>C	XP_011528789.1:p.Gln669His
XM_011530488.1:c.2007G>C	XP_011528790.1:p.Gln669His
XM_011530489.1:c.2007G>C	XP_011528791.1:p.Gln669His
XM_011530490.1:c.1953G>C	XP_011528792.1:p.Gln651His
XM_011530491.1:c.2007G>C	XP_011528793.1:p.Gln669His
XM_011530492.1:c.2007G>C	XP_011528794.1:p.Gln669His
XM_011530493.1:c.1846-4535G>C	XP_011528795.1:n.1846-4535G>C
XM_011530494.1:c.1215G>C	XP_011528796.1:p.Gln405His
XM_011530495.1:c.1362G>C	XP_011528797.1:p.Gln454His
XM_011530496.1:c.1215G>C	XP_011528798.1:p.Gln405His
XR_937947.1:n.2666G>C
NM_001349896.1:c.1875G>C	NP_001336825.1:p.Gln625His
NM_001349898.1:c.1875G>C	NP_001336827.1:p.Gln625His
NM_001349899.1:c.1875G>C	NP_001336828.1:p.Gln625His
NM_001349900.1:c.1929G>C	NP_001336829.1:p.Gln643His
NM_001349901.1:c.1929G>C	NP_001336830.1:p.Gln643His
NM_001349902.1:c.1714-4535G>C	NP_001336831.1:n.1714-4535G>C
NM_001349903.1:c.1714-4535G>C	NP_001336832.1:n.1714-4535G>C
NM_001349904.1:c.1875G>C	NP_001336833.1:p.Gln625His
NM_001349905.1:c.1875G>C	NP_001336834.1:p.Gln625His
NR_146311.1:n.2652G>C
NR_146312.1:n.2477G>C
NR_146313.1:n.2497G>C
NR_146314.1:n.2628G>C
NR_146315.1:n.2568G>C
NR_146316.1:n.2543G>C
XM_006724360.3:c.1362G>C	XP_006724423.1:p.Gln454His
XM_011530485.2:c.2007G>C	XP_011528787.1:p.Gln669His
XM_011530486.2:c.2007G>C	XP_011528788.1:p.Gln669His
XM_011530487.2:c.2007G>C	XP_011528789.1:p.Gln669His
XM_011530488.2:c.2007G>C	XP_011528790.1:p.Gln669His
XM_011530489.2:c.2007G>C	XP_011528791.1:p.Gln669His
XM_011530490.3:c.1953G>C	XP_011528792.1:p.Gln651His
XM_011530491.3:c.2007G>C	XP_011528793.1:p.Gln669His
XM_011530492.2:c.2007G>C	XP_011528794.1:p.Gln669His
XM_011530493.3:c.1846-4535G>C	XP_011528795.1:n.1846-4535G>C
XM_011530494.2:c.1215G>C	XP_011528796.1:p.Gln405His
XM_011530495.2:c.1362G>C	XP_011528797.1:p.Gln454His
XM_011530496.2:c.1215G>C	XP_011528798.1:p.Gln405His
XM_017029045.2:c.1953G>C	XP_016884534.1:p.Gln651His
XM_017029046.2:c.1875G>C	XP_016884535.1:p.Gln625His
XM_017029047.2:c.1792-4535G>C	XP_016884536.1:n.1792-4535G>C
XM_017029052.2:c.1467G>C	XP_016884541.1:p.Gln489His
XM_017029053.1:c.1452G>C	XP_016884542.1:p.Gln484His
XM_017029056.2:c.1080G>C	XP_016884545.1:p.Gln360His
XM_017029061.2:c.1080G>C	XP_016884550.1:p.Gln360His
XM_017029062.2:c.1080G>C	XP_016884551.1:p.Gln360His
XM_017029063.2:c.1080G>C	XP_016884552.1:p.Gln360His
XM_017029064.2:c.1080G>C	XP_016884553.1:p.Gln360His
XM_024452298.1:c.1248G>C	XP_024308066.1:p.Gln416His
XM_024452299.1:c.1080G>C	XP_024308067.1:p.Gln360His
XM_024452300.1:c.1080G>C	XP_024308068.1:p.Gln360His
XR_001755361.2:n.2583G>C
XR_001755364.1:n.2278-4535G>C
XR_001755366.2:n.3112G>C
XR_002958721.1:n.2500-4535G>C
XR_937947.2:n.2661G>C
NM_001349898.2:c.1875G>C	NP_001336827.1:p.Gln625His
NM_001349899.2:c.1875G>C	NP_001336828.1:p.Gln625His
NM_001349900.2:c.1929G>C	NP_001336829.1:p.Gln643His
NM_001349903.2:c.1714-4535G>C	NP_001336832.1:n.1714-4535G>C
NM_001349904.2:c.1875G>C	NP_001336833.1:p.Gln625His
NR_073136.2:n.2130G>C
NR_146311.2:n.2572G>C
NR_146313.2:n.2417G>C
NR_146315.2:n.2488G>C
NM_022081.6:c.1875G>C MANE Select	NP_071364.4:p.Gln625His
NR_146316.2:n.2463G>C