Canonical Allele Identifier: CA4729416

Gene: KAT6A

Linked Data

• ClinVar Variation Id: 1496155
• ClinVar RCV Id: RCV002028442 ; RCV004045488
• dbSNP Id: rs144720569
• ExAC: 8:41790868 C / T
• gnomAD v2: 8-41790868-C-T
• gnomAD v3: 8-41933350-C-T
• gnomAD v4: 8-41933350-C-T
• MyVariant Identifiers: chr8:g.41790868C>T (hg19) ; chr8:g.41933350C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.41933350C>T , CM000670.2:g.41933350C>T	GRCh38
NC_000008.10:g.41790868C>T , CM000670.1:g.41790868C>T	GRCh37
NC_000008.9:g.41910025C>T	NCBI36
NG_042093.1:g.123677G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265713.8:c.4870G>A MANE Select	ENSP00000265713.2:p.Val1624Ile
ENST00000396930.4:c.4870G>A	ENSP00000380136.3:p.Val1624Ile
ENST00000406337.6:c.4876G>A	ENSP00000385888.2:p.Val1626Ile
ENST00000648335.1:c.4870G>A	ENSP00000497086.1:p.Val1624Ile
ENST00000649817.1:c.3551G>A
ENST00000265713.6:c.4870G>A	ENSP00000265713.2:p.Val1624Ile
ENST00000396930.3:c.4870G>A	ENSP00000380136.3:p.Val1624Ile
ENST00000406337.5:c.4870G>A	ENSP00000385888.1:p.Val1624Ile
NM_001099412.1:c.4870G>A	NP_001092882.1:p.Val1624Ile
NM_001099413.1:c.4870G>A	NP_001092883.1:p.Val1624Ile
NM_006766.3:c.4870G>A	NP_006757.2:p.Val1624Ile
NM_006766.4:c.4870G>A	NP_006757.2:p.Val1624Ile
XM_011544656.1:c.5002G>A	XP_011542958.1:p.Val1668Ile
XM_011544657.1:c.5002G>A	XP_011542959.1:p.Val1668Ile
XM_011544658.1:c.5002G>A	XP_011542960.1:p.Val1668Ile
XM_011544659.1:c.4981G>A	XP_011542961.1:p.Val1661Ile
XM_011544660.1:c.4888G>A	XP_011542962.1:p.Val1630Ile
XM_011544656.2:c.5002G>A	XP_011542958.1:p.Val1668Ile
XM_011544657.3:c.5002G>A	XP_011542959.1:p.Val1668Ile
XM_011544658.3:c.5002G>A	XP_011542960.1:p.Val1668Ile
XM_011544659.2:c.4981G>A	XP_011542961.1:p.Val1661Ile
XM_017013863.1:c.4870G>A	XP_016869352.1:p.Val1624Ile
XM_017013864.2:c.4870G>A	XP_016869353.1:p.Val1624Ile
XM_024447285.1:c.3442G>A	XP_024303053.1:p.Val1148Ile
NM_006766.5:c.4870G>A MANE Select	NP_006757.2:p.Val1624Ile