Canonical Allele Identifier: CA351261480

Gene: HDAC4

Linked Data

• gnomAD v4: 2-239084169-G-A
• MyVariant Identifiers: chr2:g.240005865G>A (hg19) ; chr2:g.239084169G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.239084169G>A , CM000664.2:g.239084169G>A	GRCh38
NC_000002.11:g.240005865G>A , CM000664.1:g.240005865G>A	GRCh37
NC_000002.10:g.239670802G>A	NCBI36
NG_009235.1:g.321779C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000690129.1:n.532C>T
ENST00000543185.6:c.2518C>T MANE Select	ENSP00000440481.3:p.Leu840Phe
ENST00000345617.7:c.2503C>T	ENSP00000264606.3:p.Leu835Phe
ENST00000487617.5:n.410C>T
ENST00000543185.5:c.2167C>T	ENSP00000440481.2:p.Leu723Phe
NM_006037.3:c.2503C>T	NP_006028.2:p.Leu835Phe
XM_006712877.2:c.2575C>T	XP_006712940.1:p.Leu859Phe
XM_006712878.2:c.2518C>T	XP_006712941.1:p.Leu840Phe
XM_006712879.2:c.2437C>T	XP_006712942.1:p.Leu813Phe
XM_006712880.2:c.2437C>T	XP_006712943.1:p.Leu813Phe
XM_011512217.1:c.2590C>T	XP_011510519.1:p.Leu864Phe
XM_011512218.1:c.2575C>T	XP_011510520.1:p.Leu859Phe
XM_011512219.1:c.2560C>T	XP_011510521.1:p.Leu854Phe
XM_011512220.1:c.2521C>T	XP_011510522.1:p.Leu841Phe
XM_011512221.1:c.2518C>T	XP_011510523.1:p.Leu840Phe
XM_011512222.1:c.2518C>T	XP_011510524.1:p.Leu840Phe
XM_011512223.1:c.2518C>T	XP_011510525.1:p.Leu840Phe
XM_011512224.1:c.2503C>T	XP_011510526.1:p.Leu835Phe
XM_011512225.1:c.2488C>T	XP_011510527.1:p.Leu830Phe
XM_011512226.1:c.2446C>T	XP_011510528.1:p.Leu816Phe
XM_011512227.1:c.2374C>T	XP_011510529.1:p.Leu792Phe
XM_011512228.1:c.2437C>T	XP_011510530.1:p.Leu813Phe
XM_011512229.1:c.2437C>T	XP_011510531.1:p.Leu813Phe
XM_011512230.1:c.1270C>T	XP_011510532.1:p.Leu424Phe
XM_006712877.3:c.2575C>T	XP_006712940.1:p.Leu859Phe
XM_006712878.3:c.2518C>T	XP_006712941.1:p.Leu840Phe
XM_006712879.3:c.2437C>T	XP_006712942.1:p.Leu813Phe
XM_006712880.3:c.2437C>T	XP_006712943.1:p.Leu813Phe
XM_011512217.2:c.2590C>T	XP_011510519.1:p.Leu864Phe
XM_011512218.2:c.2575C>T	XP_011510520.1:p.Leu859Phe
XM_011512219.2:c.2560C>T	XP_011510521.1:p.Leu854Phe
XM_011512220.2:c.2521C>T	XP_011510522.1:p.Leu841Phe
XM_011512222.3:c.2518C>T	XP_011510524.1:p.Leu840Phe
XM_011512223.2:c.2518C>T	XP_011510525.1:p.Leu840Phe
XM_011512224.2:c.2503C>T	XP_011510526.1:p.Leu835Phe
XM_011512225.2:c.2488C>T	XP_011510527.1:p.Leu830Phe
XM_011512226.2:c.2446C>T	XP_011510528.1:p.Leu816Phe
XM_011512227.2:c.2374C>T	XP_011510529.1:p.Leu792Phe
XM_017005394.1:c.2458C>T	XP_016860883.1:p.Leu820Phe
XM_017005395.1:c.2002C>T	XP_016860884.1:p.Leu668Phe
XM_024453257.1:c.2437C>T	XP_024309025.1:p.Leu813Phe
NM_001378414.1:c.2518C>T MANE Select	NP_001365343.1:p.Leu840Phe
NM_001378415.1:c.2518C>T	NP_001365344.1:p.Leu840Phe
NM_001378416.1:c.2503C>T	NP_001365345.1:p.Leu835Phe
NM_001378417.1:c.2503C>T	NP_001365346.1:p.Leu835Phe
NM_006037.4:c.2503C>T	NP_006028.2:p.Leu835Phe