Canonical Allele Identifier: CA10575581

Gene: ZC4H2

Linked Data

• ClinVar Variation Id: 50983
• ClinVar RCV Id: RCV000043679 ; RCV001384432 ; RCV002354226
• dbSNP Id: rs879255236
• MyVariant Identifiers: chrX:g.64137701G>A (hg19) ; chrX:g.64917821G>A (hg38)
• PubMed: PMID:23623388 ; PMID:26056227

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.64917821G>A , CM000685.2:g.64917821G>A	GRCh38
NC_000023.10:g.64137701G>A , CM000685.1:g.64137701G>A	GRCh37
NC_000023.9:g.64054426G>A	NCBI36
NG_021200.1:g.63713C>T
NG_021200.2:g.121924C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000492653.6:c.*261C>T	ENSP00000515192.1:n.*261C>T
ENST00000703133.1:c.*1211C>T	ENSP00000515188.1:n.*1211C>T
ENST00000703136.1:c.*595C>T	ENSP00000515190.1:n.*595C>T
ENST00000374839.8:c.637C>T MANE Select	ENSP00000363972.3:p.Arg213Trp
ENST00000337990.2:c.568C>T	ENSP00000338650.2:p.Arg190Trp
ENST00000374839.7:c.637C>T	ENSP00000363972.3:p.Arg213Trp
ENST00000447788.6:c.474C>T	ENSP00000399126.2:p.Pro158=
ENST00000488406.1:n.157C>T
ENST00000488608.5:n.2814C>T
ENST00000492653.5:n.765C>T
NM_001178032.2:c.568C>T	NP_001171503.1:p.Arg190Trp
NM_001178033.2:c.474C>T	NP_001171504.1:p.Pro158=
NM_001243804.1:c.568C>T	NP_001230733.1:p.Arg190Trp
NM_018684.3:c.637C>T	NP_061154.1:p.Arg213Trp
NR_045044.1:n.1048C>T
NM_018684.4:c.637C>T MANE Select	NP_061154.1:p.Arg213Trp
NM_001178032.3:c.568C>T	NP_001171503.1:p.Arg190Trp
NM_001243804.2:c.568C>T	NP_001230733.1:p.Arg190Trp
NR_045044.2:n.965C>T
NM_001178033.3:c.474C>T	NP_001171504.1:p.Pro158=