Canonical Allele Identifier: CA4729516

Gene: KAT6A

Linked Data

• ClinVar Variation Id: 1739014
• ClinVar RCV Id: RCV002329789 ; RCV003775843
• dbSNP Id: rs756092005
• ExAC: 8:41791496 C / G
• gnomAD v2: 8-41791496-C-G
• gnomAD v4: 8-41933978-C-G
• MyVariant Identifiers: chr8:g.41791496C>G (hg19) ; chr8:g.41933978C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.41933978C>G , CM000670.2:g.41933978C>G	GRCh38
NC_000008.10:g.41791496C>G , CM000670.1:g.41791496C>G	GRCh37
NC_000008.9:g.41910653C>G	NCBI36
NG_042093.1:g.123049G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265713.8:c.4242G>C MANE Select	ENSP00000265713.2:p.Glu1414Asp
ENST00000396930.4:c.4242G>C	ENSP00000380136.3:p.Glu1414Asp
ENST00000406337.6:c.4248G>C	ENSP00000385888.2:p.Glu1416Asp
ENST00000648335.1:c.4242G>C	ENSP00000497086.1:p.Glu1414Asp
ENST00000649817.1:c.2923G>C
ENST00000265713.6:c.4242G>C	ENSP00000265713.2:p.Glu1414Asp
ENST00000396930.3:c.4242G>C	ENSP00000380136.3:p.Glu1414Asp
ENST00000406337.5:c.4242G>C	ENSP00000385888.1:p.Glu1414Asp
NM_001099412.1:c.4242G>C	NP_001092882.1:p.Glu1414Asp
NM_001099413.1:c.4242G>C	NP_001092883.1:p.Glu1414Asp
NM_006766.3:c.4242G>C	NP_006757.2:p.Glu1414Asp
NM_006766.4:c.4242G>C	NP_006757.2:p.Glu1414Asp
XM_011544656.1:c.4374G>C	XP_011542958.1:p.Glu1458Asp
XM_011544657.1:c.4374G>C	XP_011542959.1:p.Glu1458Asp
XM_011544658.1:c.4374G>C	XP_011542960.1:p.Glu1458Asp
XM_011544659.1:c.4353G>C	XP_011542961.1:p.Glu1451Asp
XM_011544660.1:c.4260G>C	XP_011542962.1:p.Glu1420Asp
XM_011544656.2:c.4374G>C	XP_011542958.1:p.Glu1458Asp
XM_011544657.3:c.4374G>C	XP_011542959.1:p.Glu1458Asp
XM_011544658.3:c.4374G>C	XP_011542960.1:p.Glu1458Asp
XM_011544659.2:c.4353G>C	XP_011542961.1:p.Glu1451Asp
XM_017013863.1:c.4242G>C	XP_016869352.1:p.Glu1414Asp
XM_017013864.2:c.4242G>C	XP_016869353.1:p.Glu1414Asp
XM_024447285.1:c.2814G>C	XP_024303053.1:p.Glu938Asp
NM_006766.5:c.4242G>C MANE Select	NP_006757.2:p.Glu1414Asp