Canonical Allele Identifier: CA371063941

Gene: KAT6A

Linked Data

• gnomAD v4: 8-41933240-C-A
• MyVariant Identifiers: chr8:g.41790758C>A (hg19) ; chr8:g.41933240C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.41933240C>A , CM000670.2:g.41933240C>A	GRCh38
NC_000008.10:g.41790758C>A , CM000670.1:g.41790758C>A	GRCh37
NC_000008.9:g.41909915C>A	NCBI36
NG_042093.1:g.123787G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265713.8:c.4980G>T MANE Select	ENSP00000265713.2:p.Gln1660His
ENST00000396930.4:c.4980G>T	ENSP00000380136.3:p.Gln1660His
ENST00000406337.6:c.4986G>T	ENSP00000385888.2:p.Gln1662His
ENST00000648335.1:c.4980G>T	ENSP00000497086.1:p.Gln1660His
ENST00000649817.1:c.3661G>T
ENST00000265713.6:c.4980G>T	ENSP00000265713.2:p.Gln1660His
ENST00000396930.3:c.4980G>T	ENSP00000380136.3:p.Gln1660His
ENST00000406337.5:c.4980G>T	ENSP00000385888.1:p.Gln1660His
NM_001099412.1:c.4980G>T	NP_001092882.1:p.Gln1660His
NM_001099413.1:c.4980G>T	NP_001092883.1:p.Gln1660His
NM_006766.3:c.4980G>T	NP_006757.2:p.Gln1660His
NM_006766.4:c.4980G>T	NP_006757.2:p.Gln1660His
XM_011544656.1:c.5112G>T	XP_011542958.1:p.Gln1704His
XM_011544657.1:c.5112G>T	XP_011542959.1:p.Gln1704His
XM_011544658.1:c.5112G>T	XP_011542960.1:p.Gln1704His
XM_011544659.1:c.5091G>T	XP_011542961.1:p.Gln1697His
XM_011544660.1:c.4998G>T	XP_011542962.1:p.Gln1666His
XM_011544656.2:c.5112G>T	XP_011542958.1:p.Gln1704His
XM_011544657.3:c.5112G>T	XP_011542959.1:p.Gln1704His
XM_011544658.3:c.5112G>T	XP_011542960.1:p.Gln1704His
XM_011544659.2:c.5091G>T	XP_011542961.1:p.Gln1697His
XM_017013863.1:c.4980G>T	XP_016869352.1:p.Gln1660His
XM_017013864.2:c.4980G>T	XP_016869353.1:p.Gln1660His
XM_024447285.1:c.3552G>T	XP_024303053.1:p.Gln1184His
NM_006766.5:c.4980G>T MANE Select	NP_006757.2:p.Gln1660His