Canonical Allele Identifier: CA408488536

Gene: KIZ

Linked Data

• ClinVar Variation Id: 1933998
• ClinVar RCV Id: RCV002638622
• dbSNP Id: rs2032195039
• gnomAD v3: 20-21136484-C-T
• gnomAD v4: 20-21136484-C-T
• MyVariant Identifiers: chr20:g.21117125C>T (hg19) ; chr20:g.21136484C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.21136484C>T , CM000682.2:g.21136484C>T	GRCh38
NC_000020.10:g.21117125C>T , CM000682.1:g.21117125C>T	GRCh37
NC_000020.9:g.21065125C>T	NCBI36
NG_033122.1:g.15502C>T
NG_033122.2:g.15505C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000619189.5:c.247C>T MANE Select	ENSP00000479542.1:p.Arg83Ter
ENST00000611685.4:c.167-9081C>T
ENST00000616848.4:c.6+4325C>T	ENSP00000480612.1:n.6+4325C>T
ENST00000619189.4:c.247C>T	ENSP00000479542.1:p.Arg83Ter
ENST00000619574.4:c.169-9081C>T	ENSP00000484706.1:n.169-9081C>T
ENST00000620553.2:n.303C>T
ENST00000620891.4:c.6+4325C>T	ENSP00000478019.1:n.6+4325C>T
NM_001163022.1:c.6+4325C>T	NP_001156494.1:n.6+4325C>T
NM_001163023.1:c.6+4325C>T	NP_001156495.1:n.6+4325C>T
NM_001276389.1:c.169-9081C>T	NP_001263318.1:n.169-9081C>T
NM_018474.4:c.247C>T	NP_060944.3:p.Arg83Ter
XM_011529296.1:c.247C>T	XP_011527598.1:p.Arg83Ter
XM_011529297.1:c.247C>T	XP_011527599.1:p.Arg83Ter
XM_011529298.1:c.247C>T	XP_011527600.1:p.Arg83Ter
XM_011529299.1:c.6+4325C>T	XP_011527601.1:n.6+4325C>T
XR_937105.1:n.371C>T
NM_001163022.2:c.6+4325C>T	NP_001156494.1:n.6+4325C>T
NM_001163023.2:c.6+4325C>T	NP_001156495.1:n.6+4325C>T
NM_001276389.2:c.169-9081C>T	NP_001263318.1:n.169-9081C>T
NM_001352434.1:c.247C>T	NP_001339363.1:p.Arg83Ter
NM_001352435.1:c.6+4325C>T	NP_001339364.1:n.6+4325C>T
NM_001352436.1:c.-140C>T	NP_001339365.1:n.-140C>T
NM_018474.5:c.247C>T	NP_060944.3:p.Arg83Ter
XM_011529296.3:c.247C>T	XP_011527598.1:p.Arg83Ter
XM_011529297.3:c.247C>T	XP_011527599.1:p.Arg83Ter
XM_011529299.3:c.6+4325C>T	XP_011527601.1:n.6+4325C>T
XM_017027951.2:c.-140C>T	XP_016883440.1:n.-140C>T
XM_017027952.2:c.6+4325C>T	XP_016883441.1:n.6+4325C>T
XR_001754334.2:n.313C>T
XR_937105.3:n.313C>T
NM_018474.6:c.247C>T MANE Select	NP_060944.3:p.Arg83Ter
NM_001163022.3:c.6+4325C>T	NP_001156494.1:n.6+4325C>T
NM_001163023.3:c.6+4325C>T	NP_001156495.1:n.6+4325C>T
NM_001352434.2:c.247C>T	NP_001339363.1:p.Arg83Ter
NM_001352435.2:c.6+4325C>T	NP_001339364.1:n.6+4325C>T
NM_001352436.2:c.-140C>T	NP_001339365.1:n.-140C>T