Canonical Allele Identifier: CA10433367

Gene: ZC4H2

Linked Data

• ClinVar Variation Id: 587843
• ClinVar RCV Id: RCV001712781 ; RCV002312332
• dbSNP Id: rs6653206
• ExAC: X:64137723 A / T
• gnomAD v2: X-64137723-A-T
• gnomAD v3: X-64917843-A-T
• gnomAD v4: X-64917843-A-T
• MyVariant Identifiers: chrX:g.64137723A>T (hg19) ; chrX:g.64917843A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.64917843A>T , CM000685.2:g.64917843A>T	GRCh38
NC_000023.10:g.64137723A>T , CM000685.1:g.64137723A>T	GRCh37
NC_000023.9:g.64054448A>T	NCBI36
NG_021200.1:g.63691T>A
NG_021200.2:g.121902T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000492653.6:c.*239T>A	ENSP00000515192.1:n.*239T>A
ENST00000703133.1:c.*1189T>A	ENSP00000515188.1:n.*1189T>A
ENST00000703136.1:c.*573T>A	ENSP00000515190.1:n.*573T>A
ENST00000374839.8:c.615T>A MANE Select	ENSP00000363972.3:p.Leu205=
ENST00000337990.2:c.546T>A	ENSP00000338650.2:p.Leu182=
ENST00000374839.7:c.615T>A	ENSP00000363972.3:p.Leu205=
ENST00000447788.6:c.452T>A	ENSP00000399126.2:p.Phe151Tyr
ENST00000488406.1:n.135T>A
ENST00000488608.5:n.2792T>A
ENST00000488831.5:n.603T>A
ENST00000492653.5:n.743T>A
NM_001178032.2:c.546T>A	NP_001171503.1:p.Leu182=
NM_001178033.2:c.452T>A	NP_001171504.1:p.Phe151Tyr
NM_001243804.1:c.546T>A	NP_001230733.1:p.Leu182=
NM_018684.3:c.615T>A	NP_061154.1:p.Leu205=
NR_045044.1:n.1026T>A
NM_018684.4:c.615T>A MANE Select	NP_061154.1:p.Leu205=
NM_001178032.3:c.546T>A	NP_001171503.1:p.Leu182=
NM_001243804.2:c.546T>A	NP_001230733.1:p.Leu182=
NR_045044.2:n.943T>A
NM_001178033.3:c.452T>A	NP_001171504.1:p.Phe151Tyr