Canonical Allele Identifier: CA4729474

Gene: KAT6A

Linked Data

• ClinVar Variation Id: 2071847
• ClinVar RCV Id: RCV002962453
• dbSNP Id: rs371143386
• ExAC: 8:41791263 T / C
• gnomAD v2: 8-41791263-T-C
• gnomAD v3: 8-41933745-T-C
• gnomAD v4: 8-41933745-T-C
• MyVariant Identifiers: chr8:g.41791263T>C (hg19) ; chr8:g.41933745T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.41933745T>C , CM000670.2:g.41933745T>C	GRCh38
NC_000008.10:g.41791263T>C , CM000670.1:g.41791263T>C	GRCh37
NC_000008.9:g.41910420T>C	NCBI36
NG_042093.1:g.123282A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265713.8:c.4475A>G MANE Select	ENSP00000265713.2:p.Gln1492Arg
ENST00000396930.4:c.4475A>G	ENSP00000380136.3:p.Gln1492Arg
ENST00000406337.6:c.4481A>G	ENSP00000385888.2:p.Gln1494Arg
ENST00000648335.1:c.4475A>G	ENSP00000497086.1:p.Gln1492Arg
ENST00000649817.1:c.3156A>G
ENST00000265713.6:c.4475A>G	ENSP00000265713.2:p.Gln1492Arg
ENST00000396930.3:c.4475A>G	ENSP00000380136.3:p.Gln1492Arg
ENST00000406337.5:c.4475A>G	ENSP00000385888.1:p.Gln1492Arg
NM_001099412.1:c.4475A>G	NP_001092882.1:p.Gln1492Arg
NM_001099413.1:c.4475A>G	NP_001092883.1:p.Gln1492Arg
NM_006766.3:c.4475A>G	NP_006757.2:p.Gln1492Arg
NM_006766.4:c.4475A>G	NP_006757.2:p.Gln1492Arg
XM_011544656.1:c.4607A>G	XP_011542958.1:p.Gln1536Arg
XM_011544657.1:c.4607A>G	XP_011542959.1:p.Gln1536Arg
XM_011544658.1:c.4607A>G	XP_011542960.1:p.Gln1536Arg
XM_011544659.1:c.4586A>G	XP_011542961.1:p.Gln1529Arg
XM_011544660.1:c.4493A>G	XP_011542962.1:p.Gln1498Arg
XM_011544656.2:c.4607A>G	XP_011542958.1:p.Gln1536Arg
XM_011544657.3:c.4607A>G	XP_011542959.1:p.Gln1536Arg
XM_011544658.3:c.4607A>G	XP_011542960.1:p.Gln1536Arg
XM_011544659.2:c.4586A>G	XP_011542961.1:p.Gln1529Arg
XM_017013863.1:c.4475A>G	XP_016869352.1:p.Gln1492Arg
XM_017013864.2:c.4475A>G	XP_016869353.1:p.Gln1492Arg
XM_024447285.1:c.3047A>G	XP_024303053.1:p.Gln1016Arg
NM_006766.5:c.4475A>G MANE Select	NP_006757.2:p.Gln1492Arg