Canonical Allele Identifier: CA2199324

Gene: HDAC4

Linked Data

• ClinVar Variation Id: 1256985
• ClinVar RCV Id: RCV001666135
• dbSNP Id: rs10168964
• ExAC: 2:240003873 G / A
• gnomAD v2: 2-240003873-G-A
• gnomAD v3: 2-239082177-G-A
• gnomAD v4: 2-239082177-G-A
• MyVariant Identifiers: chr2:g.240003873G>A (hg19) ; chr2:g.239082177G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.239082177G>A , CM000664.2:g.239082177G>A	GRCh38
NC_000002.11:g.240003873G>A , CM000664.1:g.240003873G>A	GRCh37
NC_000002.10:g.239668810G>A	NCBI36
NG_009235.1:g.323771C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000690129.1:n.591C>T
ENST00000543185.6:c.2577C>T MANE Select	ENSP00000440481.3:p.Asp859=
ENST00000345617.7:c.2562C>T	ENSP00000264606.3:p.Asp854=
ENST00000487617.5:n.469C>T
ENST00000543185.5:c.2226C>T	ENSP00000440481.2:p.Asp742=
NM_006037.3:c.2562C>T	NP_006028.2:p.Asp854=
XM_006712877.2:c.2634C>T	XP_006712940.1:p.Asp878=
XM_006712878.2:c.2577C>T	XP_006712941.1:p.Asp859=
XM_006712879.2:c.2496C>T	XP_006712942.1:p.Asp832=
XM_006712880.2:c.2496C>T	XP_006712943.1:p.Asp832=
XM_011512217.1:c.2649C>T	XP_011510519.1:p.Asp883=
XM_011512218.1:c.2634C>T	XP_011510520.1:p.Asp878=
XM_011512219.1:c.2619C>T	XP_011510521.1:p.Asp873=
XM_011512220.1:c.2580C>T	XP_011510522.1:p.Asp860=
XM_011512221.1:c.2577C>T	XP_011510523.1:p.Asp859=
XM_011512222.1:c.2577C>T	XP_011510524.1:p.Asp859=
XM_011512223.1:c.2577C>T	XP_011510525.1:p.Asp859=
XM_011512224.1:c.2562C>T	XP_011510526.1:p.Asp854=
XM_011512225.1:c.2547C>T	XP_011510527.1:p.Asp849=
XM_011512226.1:c.2505C>T	XP_011510528.1:p.Asp835=
XM_011512227.1:c.2433C>T	XP_011510529.1:p.Asp811=
XM_011512228.1:c.2496C>T	XP_011510530.1:p.Asp832=
XM_011512229.1:c.2496C>T	XP_011510531.1:p.Asp832=
XM_011512230.1:c.1329C>T	XP_011510532.1:p.Asp443=
XM_006712877.3:c.2634C>T	XP_006712940.1:p.Asp878=
XM_006712878.3:c.2577C>T	XP_006712941.1:p.Asp859=
XM_006712879.3:c.2496C>T	XP_006712942.1:p.Asp832=
XM_006712880.3:c.2496C>T	XP_006712943.1:p.Asp832=
XM_011512217.2:c.2649C>T	XP_011510519.1:p.Asp883=
XM_011512218.2:c.2634C>T	XP_011510520.1:p.Asp878=
XM_011512219.2:c.2619C>T	XP_011510521.1:p.Asp873=
XM_011512220.2:c.2580C>T	XP_011510522.1:p.Asp860=
XM_011512222.3:c.2577C>T	XP_011510524.1:p.Asp859=
XM_011512223.2:c.2577C>T	XP_011510525.1:p.Asp859=
XM_011512224.2:c.2562C>T	XP_011510526.1:p.Asp854=
XM_011512225.2:c.2547C>T	XP_011510527.1:p.Asp849=
XM_011512226.2:c.2505C>T	XP_011510528.1:p.Asp835=
XM_011512227.2:c.2433C>T	XP_011510529.1:p.Asp811=
XM_017005394.1:c.2517C>T	XP_016860883.1:p.Asp839=
XM_017005395.1:c.2061C>T	XP_016860884.1:p.Asp687=
XM_024453257.1:c.2496C>T	XP_024309025.1:p.Asp832=
NM_001378414.1:c.2577C>T MANE Select	NP_001365343.1:p.Asp859=
NM_001378415.1:c.2577C>T	NP_001365344.1:p.Asp859=
NM_001378416.1:c.2562C>T	NP_001365345.1:p.Asp854=
NM_001378417.1:c.2562C>T	NP_001365346.1:p.Asp854=
NM_006037.4:c.2562C>T	NP_006028.2:p.Asp854=