Canonical Allele Identifier: CA408488310

Gene: KIZ

Linked Data

• ClinVar Variation Id: 2112991
• ClinVar RCV Id: RCV003027093
• dbSNP Id: rs1358557669
• gnomAD v2: 20-21117029-A-G
• gnomAD v4: 20-21136388-A-G
• MyVariant Identifiers: chr20:g.21117029A>G (hg19) ; chr20:g.21136388A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.21136388A>G , CM000682.2:g.21136388A>G	GRCh38
NC_000020.10:g.21117029A>G , CM000682.1:g.21117029A>G	GRCh37
NC_000020.9:g.21065029A>G	NCBI36
NG_033122.1:g.15406A>G
NG_033122.2:g.15409A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000619189.5:c.153-2A>G MANE Select	ENSP00000479542.1:n.153-2A>G
ENST00000611685.4:c.167-9177A>G
ENST00000612654.1:c.*61-2A>G	ENSP00000480859.1:n.*61-2A>G
ENST00000616848.4:c.6+4229A>G	ENSP00000480612.1:n.6+4229A>G
ENST00000619189.4:c.153-2A>G	ENSP00000479542.1:n.153-2A>G
ENST00000619574.4:c.169-9177A>G	ENSP00000484706.1:n.169-9177A>G
ENST00000620553.2:n.209-2A>G
ENST00000620891.4:c.6+4229A>G	ENSP00000478019.1:n.6+4229A>G
NM_001163022.1:c.6+4229A>G	NP_001156494.1:n.6+4229A>G
NM_001163023.1:c.6+4229A>G	NP_001156495.1:n.6+4229A>G
NM_001276389.1:c.169-9177A>G	NP_001263318.1:n.169-9177A>G
NM_018474.4:c.153-2A>G	NP_060944.3:n.153-2A>G
XM_011529296.1:c.153-2A>G	XP_011527598.1:n.153-2A>G
XM_011529297.1:c.153-2A>G	XP_011527599.1:n.153-2A>G
XM_011529298.1:c.153-2A>G	XP_011527600.1:n.153-2A>G
XM_011529299.1:c.6+4229A>G	XP_011527601.1:n.6+4229A>G
XR_937105.1:n.277-2A>G
NM_001163022.2:c.6+4229A>G	NP_001156494.1:n.6+4229A>G
NM_001163023.2:c.6+4229A>G	NP_001156495.1:n.6+4229A>G
NM_001276389.2:c.169-9177A>G	NP_001263318.1:n.169-9177A>G
NM_001352434.1:c.153-2A>G	NP_001339363.1:n.153-2A>G
NM_001352435.1:c.6+4229A>G	NP_001339364.1:n.6+4229A>G
NM_001352436.1:c.-234-2A>G	NP_001339365.1:n.-234-2A>G
NM_018474.5:c.153-2A>G	NP_060944.3:n.153-2A>G
XM_011529296.3:c.153-2A>G	XP_011527598.1:n.153-2A>G
XM_011529297.3:c.153-2A>G	XP_011527599.1:n.153-2A>G
XM_011529299.3:c.6+4229A>G	XP_011527601.1:n.6+4229A>G
XM_017027951.2:c.-234-2A>G	XP_016883440.1:n.-234-2A>G
XM_017027952.2:c.6+4229A>G	XP_016883441.1:n.6+4229A>G
XR_001754334.2:n.219-2A>G
XR_937105.3:n.219-2A>G
NM_018474.6:c.153-2A>G MANE Select	NP_060944.3:n.153-2A>G
NM_001163022.3:c.6+4229A>G	NP_001156494.1:n.6+4229A>G
NM_001163023.3:c.6+4229A>G	NP_001156495.1:n.6+4229A>G
NM_001352434.2:c.153-2A>G	NP_001339363.1:n.153-2A>G
NM_001352435.2:c.6+4229A>G	NP_001339364.1:n.6+4229A>G
NM_001352436.2:c.-234-2A>G	NP_001339365.1:n.-234-2A>G