Canonical Allele Identifier: CA9784600

Gene: KIZ

Linked Data

• ClinVar Variation Id: 1948653
• ClinVar RCV Id: RCV002667898
• dbSNP Id: rs770008997
• ExAC: 20:21117095 G / T
• gnomAD v2: 20-21117095-G-T
• gnomAD v4: 20-21136454-G-T
• MyVariant Identifiers: chr20:g.21117095G>T (hg19) ; chr20:g.21136454G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.21136454G>T , CM000682.2:g.21136454G>T	GRCh38
NC_000020.10:g.21117095G>T , CM000682.1:g.21117095G>T	GRCh37
NC_000020.9:g.21065095G>T	NCBI36
NG_033122.1:g.15472G>T
NG_033122.2:g.15475G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000619189.5:c.217G>T MANE Select	ENSP00000479542.1:p.Ala73Ser
ENST00000611685.4:c.167-9111G>T
ENST00000616848.4:c.6+4295G>T	ENSP00000480612.1:n.6+4295G>T
ENST00000619189.4:c.217G>T	ENSP00000479542.1:p.Ala73Ser
ENST00000619574.4:c.169-9111G>T	ENSP00000484706.1:n.169-9111G>T
ENST00000620553.2:n.273G>T
ENST00000620891.4:c.6+4295G>T	ENSP00000478019.1:n.6+4295G>T
NM_001163022.1:c.6+4295G>T	NP_001156494.1:n.6+4295G>T
NM_001163023.1:c.6+4295G>T	NP_001156495.1:n.6+4295G>T
NM_001276389.1:c.169-9111G>T	NP_001263318.1:n.169-9111G>T
NM_018474.4:c.217G>T	NP_060944.3:p.Ala73Ser
XM_011529296.1:c.217G>T	XP_011527598.1:p.Ala73Ser
XM_011529297.1:c.217G>T	XP_011527599.1:p.Ala73Ser
XM_011529298.1:c.217G>T	XP_011527600.1:p.Ala73Ser
XM_011529299.1:c.6+4295G>T	XP_011527601.1:n.6+4295G>T
XR_937105.1:n.341G>T
NM_001163022.2:c.6+4295G>T	NP_001156494.1:n.6+4295G>T
NM_001163023.2:c.6+4295G>T	NP_001156495.1:n.6+4295G>T
NM_001276389.2:c.169-9111G>T	NP_001263318.1:n.169-9111G>T
NM_001352434.1:c.217G>T	NP_001339363.1:p.Ala73Ser
NM_001352435.1:c.6+4295G>T	NP_001339364.1:n.6+4295G>T
NM_001352436.1:c.-170G>T	NP_001339365.1:n.-170G>T
NM_018474.5:c.217G>T	NP_060944.3:p.Ala73Ser
XM_011529296.3:c.217G>T	XP_011527598.1:p.Ala73Ser
XM_011529297.3:c.217G>T	XP_011527599.1:p.Ala73Ser
XM_011529299.3:c.6+4295G>T	XP_011527601.1:n.6+4295G>T
XM_017027951.2:c.-170G>T	XP_016883440.1:n.-170G>T
XM_017027952.2:c.6+4295G>T	XP_016883441.1:n.6+4295G>T
XR_001754334.2:n.283G>T
XR_937105.3:n.283G>T
NM_018474.6:c.217G>T MANE Select	NP_060944.3:p.Ala73Ser
NM_001163022.3:c.6+4295G>T	NP_001156494.1:n.6+4295G>T
NM_001163023.3:c.6+4295G>T	NP_001156495.1:n.6+4295G>T
NM_001352434.2:c.217G>T	NP_001339363.1:p.Ala73Ser
NM_001352435.2:c.6+4295G>T	NP_001339364.1:n.6+4295G>T
NM_001352436.2:c.-170G>T	NP_001339365.1:n.-170G>T