Canonical Allele Identifier: CA516779341

Gene: HDAC8

Linked Data

• ClinVar Variation Id: 2742471
• ClinVar RCV Id: RCV003535479
• dbSNP Id: rs2047961516
• gnomAD v4: X-72464575-T-C
• MyVariant Identifiers: chrX:g.71684425T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.72464575T>C , CM000685.2:g.72464575T>C	GRCh38
NC_000023.10:g.71684425T>C , CM000685.1:g.71684425T>C	GRCh37
NC_000023.9:g.71601150T>C	NCBI36
NG_015851.1:g.113529A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000373568.7:c.894A>G	ENSP00000362669.3:p.Thr298=
ENST00000373573.9:c.894A>G MANE Select	ENSP00000362674.3:p.Thr298=
ENST00000373583.6:c.816A>G	ENSP00000362685.2:p.Thr272=
ENST00000373589.9:c.621A>G	ENSP00000362691.4:p.Thr207=
ENST00000415409.6:c.894A>G	ENSP00000396424.2:p.Thr298=
ENST00000436675.6:c.*149A>G	ENSP00000416489.1:n.*149A>G
ENST00000478743.2:n.980A>G
ENST00000647594.1:c.894A>G	ENSP00000496814.1:p.Thr298=
ENST00000647606.1:c.669A>G
ENST00000647613.1:c.*647A>G	ENSP00000497911.1:n.*647A>G
ENST00000647641.1:n.981A>G
ENST00000647654.1:c.621A>G	ENSP00000497568.1:p.Thr207=
ENST00000647718.1:n.949A>G
ENST00000647859.1:c.894A>G	ENSP00000497530.1:p.Thr298=
ENST00000647886.1:c.894A>G	ENSP00000497188.1:p.Thr298=
ENST00000647980.1:c.888A>G	ENSP00000498002.1:p.Thr296=
ENST00000648139.1:c.594A>G	ENSP00000496818.1:p.Thr198=
ENST00000648276.1:c.138A>G	ENSP00000497619.1:p.Thr46=
ENST00000648285.1:n.677A>G
ENST00000648298.1:c.894A>G	ENSP00000496866.1:p.Thr298=
ENST00000648452.1:c.894A>G	ENSP00000497268.1:p.Thr298=
ENST00000648459.1:c.291A>G	ENSP00000498072.1:p.Thr97=
ENST00000648504.1:c.831A>G	ENSP00000497668.1:p.Thr277=
ENST00000648711.1:c.519A>G	ENSP00000498040.1:p.Thr173=
ENST00000648731.1:c.1000A>G
ENST00000648834.1:c.894A>G	ENSP00000497764.1:p.Thr298=
ENST00000648850.1:c.529A>G
ENST00000648855.1:n.818A>G
ENST00000648870.1:c.894A>G	ENSP00000497599.1:p.Thr298=
ENST00000648922.1:c.894A>G	ENSP00000497072.1:p.Thr298=
ENST00000648939.1:c.894A>G	ENSP00000497442.1:p.Thr298=
ENST00000649097.1:c.894A>G	ENSP00000497551.1:p.Thr298=
ENST00000649116.1:c.*451A>G	ENSP00000497925.1:n.*451A>G
ENST00000649181.1:c.*256A>G	ENSP00000498150.1:n.*256A>G
ENST00000649242.1:c.*498A>G	ENSP00000497943.1:n.*498A>G
ENST00000649274.1:c.832A>G	ENSP00000497032.1:n.832A>G
ENST00000649518.1:c.*498A>G	ENSP00000498169.1:n.*498A>G
ENST00000649543.1:c.*498A>G	ENSP00000496826.1:n.*498A>G
ENST00000649752.1:c.621A>G	ENSP00000497267.1:p.Thr207=
ENST00000650076.1:c.211+24358A>G
ENST00000650471.1:c.*338A>G	ENSP00000498027.1:n.*338A>G
ENST00000650604.1:c.321A>G	ENSP00000497105.1:p.Thr107=
ENST00000373568.6:c.621A>G	ENSP00000362669.2:p.Thr207=
ENST00000373573.7:c.894A>G	ENSP00000362674.3:p.Thr298=
ENST00000373583.5:c.164+107482A>G	ENSP00000362685.1:n.164+107482A>G
ENST00000373589.8:c.621A>G	ENSP00000362691.4:p.Thr207=
ENST00000415409.5:c.816A>G	ENSP00000396424.1:p.Thr272=
ENST00000436675.5:c.*149A>G	ENSP00000416489.1:n.*149A>G
NM_001166418.1:c.621A>G	NP_001159890.1:p.Thr207=
NM_018486.2:c.894A>G	NP_060956.1:p.Thr298=
NR_051952.1:n.1094A>G
XM_011530986.1:c.894A>G	XP_011529288.1:p.Thr298=
XM_011530987.1:c.894A>G	XP_011529289.1:p.Thr298=
XM_011530988.1:c.894A>G	XP_011529290.1:p.Thr298=
XR_938402.1:n.980A>G
XM_011530986.3:c.894A>G	XP_011529288.3:p.Thr298=
XM_017029640.2:c.816A>G	XP_016885129.2:p.Thr272=
XM_017029641.2:c.816A>G	XP_016885130.2:p.Thr272=
XM_017029642.1:c.735A>G	XP_016885131.1:p.Thr245=
XM_017029643.2:c.708A>G	XP_016885132.1:p.Thr236=
XM_017029644.2:c.657A>G	XP_016885133.1:p.Thr219=
XM_017029645.2:c.708A>G	XP_016885134.1:p.Thr236=
XM_017029646.1:c.507A>G	XP_016885135.1:p.Thr169=
XM_024452405.1:c.309A>G	XP_024308173.1:p.Thr103=
XR_001755711.2:n.980A>G
XR_002958779.1:n.980A>G
XR_002958780.1:n.980A>G
XR_002958781.1:n.980A>G
XR_002958782.1:n.956A>G
XR_002958783.1:n.956A>G
XR_938402.3:n.980A>G
NM_018486.3:c.894A>G MANE Select	NP_060956.1:p.Thr298=
NM_001166418.2:c.621A>G	NP_001159890.1:p.Thr207=
NR_051952.2:n.834A>G