Canonical Allele Identifier: CA2199328

Gene: HDAC4

Linked Data

• dbSNP Id: rs756599020
• ExAC: 2:240003878 T / C
• gnomAD v2: 2-240003878-T-C
• gnomAD v4: 2-239082182-T-C
• MyVariant Identifiers: chr2:g.240003878T>C (hg19) ; chr2:g.239082182T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.239082182T>C , CM000664.2:g.239082182T>C	GRCh38
NC_000002.11:g.240003878T>C , CM000664.1:g.240003878T>C	GRCh37
NC_000002.10:g.239668815T>C	NCBI36
NG_009235.1:g.323766A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000690129.1:n.586A>G
ENST00000543185.6:c.2572A>G MANE Select	ENSP00000440481.3:p.Ser858Gly
ENST00000345617.7:c.2557A>G	ENSP00000264606.3:p.Ser853Gly
ENST00000487617.5:n.464A>G
ENST00000543185.5:c.2221A>G	ENSP00000440481.2:p.Ser741Gly
NM_006037.3:c.2557A>G	NP_006028.2:p.Ser853Gly
XM_006712877.2:c.2629A>G	XP_006712940.1:p.Ser877Gly
XM_006712878.2:c.2572A>G	XP_006712941.1:p.Ser858Gly
XM_006712879.2:c.2491A>G	XP_006712942.1:p.Ser831Gly
XM_006712880.2:c.2491A>G	XP_006712943.1:p.Ser831Gly
XM_011512217.1:c.2644A>G	XP_011510519.1:p.Ser882Gly
XM_011512218.1:c.2629A>G	XP_011510520.1:p.Ser877Gly
XM_011512219.1:c.2614A>G	XP_011510521.1:p.Ser872Gly
XM_011512220.1:c.2575A>G	XP_011510522.1:p.Ser859Gly
XM_011512221.1:c.2572A>G	XP_011510523.1:p.Ser858Gly
XM_011512222.1:c.2572A>G	XP_011510524.1:p.Ser858Gly
XM_011512223.1:c.2572A>G	XP_011510525.1:p.Ser858Gly
XM_011512224.1:c.2557A>G	XP_011510526.1:p.Ser853Gly
XM_011512225.1:c.2542A>G	XP_011510527.1:p.Ser848Gly
XM_011512226.1:c.2500A>G	XP_011510528.1:p.Ser834Gly
XM_011512227.1:c.2428A>G	XP_011510529.1:p.Ser810Gly
XM_011512228.1:c.2491A>G	XP_011510530.1:p.Ser831Gly
XM_011512229.1:c.2491A>G	XP_011510531.1:p.Ser831Gly
XM_011512230.1:c.1324A>G	XP_011510532.1:p.Ser442Gly
XM_006712877.3:c.2629A>G	XP_006712940.1:p.Ser877Gly
XM_006712878.3:c.2572A>G	XP_006712941.1:p.Ser858Gly
XM_006712879.3:c.2491A>G	XP_006712942.1:p.Ser831Gly
XM_006712880.3:c.2491A>G	XP_006712943.1:p.Ser831Gly
XM_011512217.2:c.2644A>G	XP_011510519.1:p.Ser882Gly
XM_011512218.2:c.2629A>G	XP_011510520.1:p.Ser877Gly
XM_011512219.2:c.2614A>G	XP_011510521.1:p.Ser872Gly
XM_011512220.2:c.2575A>G	XP_011510522.1:p.Ser859Gly
XM_011512222.3:c.2572A>G	XP_011510524.1:p.Ser858Gly
XM_011512223.2:c.2572A>G	XP_011510525.1:p.Ser858Gly
XM_011512224.2:c.2557A>G	XP_011510526.1:p.Ser853Gly
XM_011512225.2:c.2542A>G	XP_011510527.1:p.Ser848Gly
XM_011512226.2:c.2500A>G	XP_011510528.1:p.Ser834Gly
XM_011512227.2:c.2428A>G	XP_011510529.1:p.Ser810Gly
XM_017005394.1:c.2512A>G	XP_016860883.1:p.Ser838Gly
XM_017005395.1:c.2056A>G	XP_016860884.1:p.Ser686Gly
XM_024453257.1:c.2491A>G	XP_024309025.1:p.Ser831Gly
NM_001378414.1:c.2572A>G MANE Select	NP_001365343.1:p.Ser858Gly
NM_001378415.1:c.2572A>G	NP_001365344.1:p.Ser858Gly
NM_001378416.1:c.2557A>G	NP_001365345.1:p.Ser853Gly
NM_001378417.1:c.2557A>G	NP_001365346.1:p.Ser853Gly
NM_006037.4:c.2557A>G	NP_006028.2:p.Ser853Gly