Canonical Allele Identifier: CA16609220
Gene: ZC4H2 HGNC NCBI

Linked Data

ClinVar Variation Id: 378042
ClinVar RCV Id: RCV000425925
dbSNP Id: rs1057520297
MyVariant Identifiers: chrX:g.64141725A>T (hg19) chrX:g.64921845A>T (hg38)
PubMed: PMID:2018061 PMID:26056227
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.64921845A>T , CM000685.2:g.64921845A>T GRCh38
NC_000023.10:g.64141725A>T , CM000685.1:g.64141725A>T GRCh37
NC_000023.9:g.64058450A>T NCBI36
NG_021200.1:g.59689T>A
NG_021200.2:g.117900T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000476032.2:c.128T>A ENSP00000515193.1:p.Leu43His
ENST00000492653.6:c.197T>A ENSP00000515192.1:p.Leu66His
ENST00000703133.1:c.*771T>A ENSP00000515188.1:n.*771T>A
ENST00000703136.1:c.*155T>A ENSP00000515190.1:n.*155T>A
ENST00000374839.8:c.197T>A MANE Select ENSP00000363972.3:p.Leu66His
ENST00000337990.2:c.128T>A ENSP00000338650.2:p.Leu43His
ENST00000374839.7:c.197T>A ENSP00000363972.3:p.Leu66His
ENST00000447788.6:c.197T>A ENSP00000399126.2:p.Leu66His
ENST00000476032.1:n.438T>A
ENST00000488608.5:n.353T>A
ENST00000488831.5:n.185T>A
ENST00000492653.5:n.293T>A
NM_001178032.2:c.128T>A NP_001171503.1:p.Leu43His
NM_001178033.2:c.197T>A NP_001171504.1:p.Leu66His
NM_001243804.1:c.128T>A NP_001230733.1:p.Leu43His
NM_018684.3:c.197T>A NP_061154.1:p.Leu66His
NR_045044.1:n.608T>A
NM_018684.4:c.197T>A MANE Select NP_061154.1:p.Leu66His
NM_001178032.3:c.128T>A NP_001171503.1:p.Leu43His
NM_001243804.2:c.128T>A NP_001230733.1:p.Leu43His
NR_045044.2:n.525T>A
NM_001178033.3:c.197T>A NP_001171504.1:p.Leu66His
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