Canonical Allele Identifier: CA10450147

Gene: HDAC8

Linked Data

• ClinVar Variation Id: 1606860
• ClinVar RCV Id: RCV002162529
• dbSNP Id: rs781878660
• ExAC: X:71684485 G / A
• gnomAD v2: X-71684485-G-A
• gnomAD v3: X-72464635-G-A
• gnomAD v4: X-72464635-G-A
• MyVariant Identifiers: chrX:g.71684485G>A (hg19) ; chrX:g.72464635G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.72464635G>A , CM000685.2:g.72464635G>A	GRCh38
NC_000023.10:g.71684485G>A , CM000685.1:g.71684485G>A	GRCh37
NC_000023.9:g.71601210G>A	NCBI36
NG_015851.1:g.113469C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000373568.7:c.834C>T	ENSP00000362669.3:p.Asn278=
ENST00000373573.9:c.834C>T MANE Select	ENSP00000362674.3:p.Asn278=
ENST00000373583.6:c.756C>T	ENSP00000362685.2:p.Asn252=
ENST00000373589.9:c.561C>T	ENSP00000362691.4:p.Asn187=
ENST00000415409.6:c.834C>T	ENSP00000396424.2:p.Asn278=
ENST00000436675.6:c.*89C>T	ENSP00000416489.1:n.*89C>T
ENST00000478743.2:n.920C>T
ENST00000647594.1:c.834C>T	ENSP00000496814.1:p.Asn278=
ENST00000647606.1:c.609C>T
ENST00000647613.1:c.*587C>T	ENSP00000497911.1:n.*587C>T
ENST00000647641.1:n.921C>T
ENST00000647654.1:c.561C>T	ENSP00000497568.1:p.Asn187=
ENST00000647718.1:n.889C>T
ENST00000647859.1:c.834C>T	ENSP00000497530.1:p.Asn278=
ENST00000647886.1:c.834C>T	ENSP00000497188.1:p.Asn278=
ENST00000647980.1:c.828C>T	ENSP00000498002.1:p.Asn276=
ENST00000648139.1:c.534C>T	ENSP00000496818.1:p.Asn178=
ENST00000648276.1:c.78C>T	ENSP00000497619.1:p.Asn26=
ENST00000648285.1:n.617C>T
ENST00000648298.1:c.834C>T	ENSP00000496866.1:p.Asn278=
ENST00000648452.1:c.834C>T	ENSP00000497268.1:p.Asn278=
ENST00000648459.1:c.231C>T	ENSP00000498072.1:p.Asn77=
ENST00000648504.1:c.771C>T	ENSP00000497668.1:p.Asn257=
ENST00000648711.1:c.459C>T	ENSP00000498040.1:p.Asn153=
ENST00000648731.1:c.940C>T
ENST00000648834.1:c.834C>T	ENSP00000497764.1:p.Asn278=
ENST00000648850.1:c.469C>T
ENST00000648855.1:n.758C>T
ENST00000648870.1:c.834C>T	ENSP00000497599.1:p.Asn278=
ENST00000648922.1:c.834C>T	ENSP00000497072.1:p.Asn278=
ENST00000648939.1:c.834C>T	ENSP00000497442.1:p.Asn278=
ENST00000649097.1:c.834C>T	ENSP00000497551.1:p.Asn278=
ENST00000649116.1:c.*391C>T	ENSP00000497925.1:n.*391C>T
ENST00000649181.1:c.*196C>T	ENSP00000498150.1:n.*196C>T
ENST00000649242.1:c.*438C>T	ENSP00000497943.1:n.*438C>T
ENST00000649274.1:c.772C>T	ENSP00000497032.1:n.772C>T
ENST00000649518.1:c.*438C>T	ENSP00000498169.1:n.*438C>T
ENST00000649543.1:c.*438C>T	ENSP00000496826.1:n.*438C>T
ENST00000649752.1:c.561C>T	ENSP00000497267.1:p.Asn187=
ENST00000650076.1:c.211+24298C>T
ENST00000650471.1:c.*278C>T	ENSP00000498027.1:n.*278C>T
ENST00000650604.1:c.261C>T	ENSP00000497105.1:p.Asn87=
ENST00000373568.6:c.561C>T	ENSP00000362669.2:p.Asn187=
ENST00000373573.7:c.834C>T	ENSP00000362674.3:p.Asn278=
ENST00000373583.5:c.164+107422C>T	ENSP00000362685.1:n.164+107422C>T
ENST00000373589.8:c.561C>T	ENSP00000362691.4:p.Asn187=
ENST00000415409.5:c.756C>T	ENSP00000396424.1:p.Asn252=
ENST00000436675.5:c.*89C>T	ENSP00000416489.1:n.*89C>T
NM_001166418.1:c.561C>T	NP_001159890.1:p.Asn187=
NM_018486.2:c.834C>T	NP_060956.1:p.Asn278=
NR_051952.1:n.1034C>T
XM_011530986.1:c.834C>T	XP_011529288.1:p.Asn278=
XM_011530987.1:c.834C>T	XP_011529289.1:p.Asn278=
XM_011530988.1:c.834C>T	XP_011529290.1:p.Asn278=
XR_938402.1:n.920C>T
XM_011530986.3:c.834C>T	XP_011529288.3:p.Asn278=
XM_017029640.2:c.756C>T	XP_016885129.2:p.Asn252=
XM_017029641.2:c.756C>T	XP_016885130.2:p.Asn252=
XM_017029642.1:c.675C>T	XP_016885131.1:p.Asn225=
XM_017029643.2:c.648C>T	XP_016885132.1:p.Asn216=
XM_017029644.2:c.597C>T	XP_016885133.1:p.Asn199=
XM_017029645.2:c.648C>T	XP_016885134.1:p.Asn216=
XM_017029646.1:c.447C>T	XP_016885135.1:p.Asn149=
XM_024452405.1:c.249C>T	XP_024308173.1:p.Asn83=
XR_001755711.2:n.920C>T
XR_002958779.1:n.920C>T
XR_002958780.1:n.920C>T
XR_002958781.1:n.920C>T
XR_002958782.1:n.896C>T
XR_002958783.1:n.896C>T
XR_938402.3:n.920C>T
NM_018486.3:c.834C>T MANE Select	NP_060956.1:p.Asn278=
NM_001166418.2:c.561C>T	NP_001159890.1:p.Asn187=
NR_051952.2:n.774C>T