Canonical Allele Identifier: CA4729494

Gene: KAT6A

Linked Data

• ClinVar Variation Id: 1935076
• ClinVar RCV Id: RCV002622943
• dbSNP Id: rs780436495
• ExAC: 8:41791343 G / T
• gnomAD v2: 8-41791343-G-T
• gnomAD v3: 8-41933825-G-T
• gnomAD v4: 8-41933825-G-T
• MyVariant Identifiers: chr8:g.41791343G>T (hg19) ; chr8:g.41933825G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.41933825G>T , CM000670.2:g.41933825G>T	GRCh38
NC_000008.10:g.41791343G>T , CM000670.1:g.41791343G>T	GRCh37
NC_000008.9:g.41910500G>T	NCBI36
NG_042093.1:g.123202C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265713.8:c.4395C>A MANE Select	ENSP00000265713.2:p.Asp1465Glu
ENST00000396930.4:c.4395C>A	ENSP00000380136.3:p.Asp1465Glu
ENST00000406337.6:c.4401C>A	ENSP00000385888.2:p.Asp1467Glu
ENST00000648335.1:c.4395C>A	ENSP00000497086.1:p.Asp1465Glu
ENST00000649817.1:c.3076C>A
ENST00000265713.6:c.4395C>A	ENSP00000265713.2:p.Asp1465Glu
ENST00000396930.3:c.4395C>A	ENSP00000380136.3:p.Asp1465Glu
ENST00000406337.5:c.4395C>A	ENSP00000385888.1:p.Asp1465Glu
NM_001099412.1:c.4395C>A	NP_001092882.1:p.Asp1465Glu
NM_001099413.1:c.4395C>A	NP_001092883.1:p.Asp1465Glu
NM_006766.3:c.4395C>A	NP_006757.2:p.Asp1465Glu
NM_006766.4:c.4395C>A	NP_006757.2:p.Asp1465Glu
XM_011544656.1:c.4527C>A	XP_011542958.1:p.Asp1509Glu
XM_011544657.1:c.4527C>A	XP_011542959.1:p.Asp1509Glu
XM_011544658.1:c.4527C>A	XP_011542960.1:p.Asp1509Glu
XM_011544659.1:c.4506C>A	XP_011542961.1:p.Asp1502Glu
XM_011544660.1:c.4413C>A	XP_011542962.1:p.Asp1471Glu
XM_011544656.2:c.4527C>A	XP_011542958.1:p.Asp1509Glu
XM_011544657.3:c.4527C>A	XP_011542959.1:p.Asp1509Glu
XM_011544658.3:c.4527C>A	XP_011542960.1:p.Asp1509Glu
XM_011544659.2:c.4506C>A	XP_011542961.1:p.Asp1502Glu
XM_017013863.1:c.4395C>A	XP_016869352.1:p.Asp1465Glu
XM_017013864.2:c.4395C>A	XP_016869353.1:p.Asp1465Glu
XM_024447285.1:c.2967C>A	XP_024303053.1:p.Asp989Glu
NM_006766.5:c.4395C>A MANE Select	NP_006757.2:p.Asp1465Glu