Canonical Allele Identifier: CA143908

Gene: ZC4H2

Linked Data

• ClinVar Variation Id: 50982
• ClinVar RCV Id: RCV000043678 ; RCV001374903
• dbSNP Id: rs398122939
• MyVariant Identifiers: chrX:g.64137737G>A (hg19) ; chrX:g.64917857G>A (hg38)
• PubMed: PMID:1915520 ; PMID:23623388

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.64917857G>A , CM000685.2:g.64917857G>A	GRCh38
NC_000023.10:g.64137737G>A , CM000685.1:g.64137737G>A	GRCh37
NC_000023.9:g.64054462G>A	NCBI36
NG_021200.1:g.63677C>T
NG_021200.2:g.121888C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000492653.6:c.*225C>T	ENSP00000515192.1:n.*225C>T
ENST00000703133.1:c.*1175C>T	ENSP00000515188.1:n.*1175C>T
ENST00000703136.1:c.*559C>T	ENSP00000515190.1:n.*559C>T
ENST00000374839.8:c.601C>T MANE Select	ENSP00000363972.3:p.Pro201Ser
ENST00000337990.2:c.532C>T	ENSP00000338650.2:p.Pro178Ser
ENST00000374839.7:c.601C>T	ENSP00000363972.3:p.Pro201Ser
ENST00000447788.6:c.438C>T	ENSP00000399126.2:p.His146=
ENST00000488406.1:n.121C>T
ENST00000488608.5:n.2778C>T
ENST00000488831.5:n.589C>T
ENST00000492653.5:n.729C>T
NM_001178032.2:c.532C>T	NP_001171503.1:p.Pro178Ser
NM_001178033.2:c.438C>T	NP_001171504.1:p.His146=
NM_001243804.1:c.532C>T	NP_001230733.1:p.Pro178Ser
NM_018684.3:c.601C>T	NP_061154.1:p.Pro201Ser
NR_045044.1:n.1012C>T
NM_018684.4:c.601C>T MANE Select	NP_061154.1:p.Pro201Ser
NM_001178032.3:c.532C>T	NP_001171503.1:p.Pro178Ser
NM_001243804.2:c.532C>T	NP_001230733.1:p.Pro178Ser
NR_045044.2:n.929C>T
NM_001178033.3:c.438C>T	NP_001171504.1:p.His146=