Canonical Allele Identifier: CA413640250

Gene: HDAC8

Linked Data

• ClinVar Variation Id: 981339
• ClinVar RCV Id: RCV001260721
• dbSNP Id: rs2048985556
• gnomAD v4: X-72495243-G-A
• MyVariant Identifiers: chrX:g.71715093G>A (hg19) ; chrX:g.72495243G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.72495243G>A , CM000685.2:g.72495243G>A	GRCh38
NC_000023.10:g.71715093G>A , CM000685.1:g.71715093G>A	GRCh37
NC_000023.9:g.71631818G>A	NCBI36
NG_015851.1:g.82861C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373560.7:c.438-20514C>T	ENSP00000362661.2:n.438-20514C>T
ENST00000373568.7:c.463C>T	ENSP00000362669.3:p.Leu155Phe
ENST00000373571.6:c.463C>T	ENSP00000362672.1:p.Leu155Phe
ENST00000373573.9:c.463C>T MANE Select	ENSP00000362674.3:p.Leu155Phe
ENST00000373583.6:c.463C>T	ENSP00000362685.2:p.Leu155Phe
ENST00000373589.9:c.190C>T	ENSP00000362691.4:p.Leu64Phe
ENST00000412342.6:c.*161C>T	ENSP00000400180.1:n.*161C>T
ENST00000415409.6:c.463C>T	ENSP00000396424.2:p.Leu155Phe
ENST00000421523.6:c.304C>T	ENSP00000398997.2:p.Leu102Phe
ENST00000436675.6:c.463C>T	ENSP00000416489.1:p.Leu155Phe
ENST00000439122.7:c.463C>T	ENSP00000414486.2:p.Leu155Phe
ENST00000478743.2:n.549C>T
ENST00000647594.1:c.463C>T	ENSP00000496814.1:p.Leu155Phe
ENST00000647606.1:c.238C>T
ENST00000647613.1:c.*294C>T	ENSP00000497911.1:n.*294C>T
ENST00000647641.1:n.550C>T
ENST00000647654.1:c.190C>T	ENSP00000497568.1:p.Leu64Phe
ENST00000647718.1:n.518C>T
ENST00000647859.1:c.463C>T	ENSP00000497530.1:p.Leu155Phe
ENST00000647886.1:c.463C>T	ENSP00000497188.1:p.Leu155Phe
ENST00000647974.1:c.207C>T
ENST00000647980.1:c.463C>T	ENSP00000498002.1:p.Leu155Phe
ENST00000648036.1:c.463C>T	ENSP00000496994.1:p.Leu155Phe
ENST00000648101.1:n.543C>T
ENST00000648139.1:c.438-30512C>T	ENSP00000496818.1:n.438-30512C>T
ENST00000648285.1:n.246C>T
ENST00000648298.1:c.463C>T	ENSP00000496866.1:p.Leu155Phe
ENST00000648452.1:c.463C>T	ENSP00000497268.1:p.Leu155Phe
ENST00000648459.1:c.135-30512C>T	ENSP00000498072.1:n.135-30512C>T
ENST00000648504.1:c.400C>T	ENSP00000497668.1:p.Leu134Phe
ENST00000648577.1:c.463C>T	ENSP00000497552.1:p.Leu155Phe
ENST00000648711.1:c.88C>T	ENSP00000498040.1:p.Leu30Phe
ENST00000648731.1:c.383C>T
ENST00000648834.1:c.463C>T	ENSP00000497764.1:p.Leu155Phe
ENST00000648855.1:n.387C>T
ENST00000648870.1:c.463C>T	ENSP00000497599.1:p.Leu155Phe
ENST00000648922.1:c.463C>T	ENSP00000497072.1:p.Leu155Phe
ENST00000648939.1:c.463C>T	ENSP00000497442.1:p.Leu155Phe
ENST00000648962.1:c.463C>T	ENSP00000497516.1:p.Leu155Phe
ENST00000649097.1:c.463C>T	ENSP00000497551.1:p.Leu155Phe
ENST00000649116.1:c.*20C>T	ENSP00000497925.1:n.*20C>T
ENST00000649181.1:c.438-4237C>T	ENSP00000498150.1:n.438-4237C>T
ENST00000649242.1:c.463C>T	ENSP00000497943.1:p.Leu155Phe
ENST00000649274.1:c.401C>T	ENSP00000497032.1:n.401C>T
ENST00000649518.1:c.463C>T	ENSP00000498169.1:p.Leu155Phe
ENST00000649543.1:c.463C>T	ENSP00000496826.1:p.Leu155Phe
ENST00000649752.1:c.190C>T	ENSP00000497267.1:p.Leu64Phe
ENST00000650126.1:c.463C>T	ENSP00000498144.1:p.Leu155Phe
ENST00000650471.1:c.321C>T	ENSP00000498027.1:p.Ile107=
ENST00000650604.1:c.165-30512C>T	ENSP00000497105.1:n.165-30512C>T
ENST00000373559.8:c.190C>T	ENSP00000362660.4:p.Leu64Phe
ENST00000373560.6:c.438-20514C>T	ENSP00000362661.2:n.438-20514C>T
ENST00000373568.6:c.190C>T	ENSP00000362669.2:p.Leu64Phe
ENST00000373571.5:c.463C>T	ENSP00000362672.1:p.Leu155Phe
ENST00000373573.7:c.463C>T	ENSP00000362674.3:p.Leu155Phe
ENST00000373583.5:c.164+76814C>T	ENSP00000362685.1:n.164+76814C>T
ENST00000373589.8:c.190C>T	ENSP00000362691.4:p.Leu64Phe
ENST00000412342.5:c.*161C>T	ENSP00000400180.1:n.*161C>T
ENST00000415409.5:c.463C>T	ENSP00000396424.1:p.Leu155Phe
ENST00000421523.5:c.346C>T	ENSP00000398997.1:p.Leu116Phe
ENST00000436675.5:c.463C>T	ENSP00000416489.1:p.Leu155Phe
ENST00000439122.6:c.463C>T	ENSP00000414486.2:p.Leu155Phe
ENST00000478743.1:n.403C>T
NM_001166418.1:c.190C>T	NP_001159890.1:p.Leu64Phe
NM_001166419.1:c.463C>T	NP_001159891.1:p.Leu155Phe
NM_001166448.1:c.190C>T	NP_001159920.1:p.Leu64Phe
NM_018486.2:c.463C>T	NP_060956.1:p.Leu155Phe
NR_051952.1:n.663C>T
XM_011530986.1:c.463C>T	XP_011529288.1:p.Leu155Phe
XM_011530987.1:c.463C>T	XP_011529289.1:p.Leu155Phe
XM_011530988.1:c.463C>T	XP_011529290.1:p.Leu155Phe
XR_938402.1:n.549C>T
XM_011530986.3:c.463C>T	XP_011529288.3:p.Leu155Phe
XM_017029640.2:c.463C>T	XP_016885129.2:p.Leu155Phe
XM_017029641.2:c.463C>T	XP_016885130.2:p.Leu155Phe
XM_017029642.1:c.304C>T	XP_016885131.1:p.Leu102Phe
XM_017029643.2:c.552-30512C>T	XP_016885132.1:n.552-30512C>T
XM_017029644.2:c.304C>T	XP_016885133.1:p.Leu102Phe
XM_017029645.2:c.552-30512C>T	XP_016885134.1:n.552-30512C>T
XM_017029646.1:c.76C>T	XP_016885135.1:p.Leu26Phe
XM_017029647.2:c.463C>T	XP_016885136.2:p.Leu155Phe
XM_024452405.1:c.-309C>T	XP_024308173.1:n.-309C>T
XR_001755711.2:n.549C>T
XR_002958779.1:n.549C>T
XR_002958780.1:n.549C>T
XR_002958781.1:n.549C>T
XR_002958782.1:n.525C>T
XR_002958783.1:n.525C>T
XR_938402.3:n.549C>T
NM_018486.3:c.463C>T MANE Select	NP_060956.1:p.Leu155Phe
NM_001166418.2:c.190C>T	NP_001159890.1:p.Leu64Phe
NM_001166419.2:c.463C>T	NP_001159891.1:p.Leu155Phe
NM_001166448.2:c.190C>T	NP_001159920.1:p.Leu64Phe
NR_051952.2:n.403C>T