Canonical Allele Identifier: CA413411149

Gene: ZC4H2

Linked Data

• ClinVar Variation Id: 2438643
• ClinVar RCV Id: RCV003139395
• gnomAD v4: X-64917845-G-C
• MyVariant Identifiers: chrX:g.64137725G>C (hg19) ; chrX:g.64917845G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.64917845G>C , CM000685.2:g.64917845G>C	GRCh38
NC_000023.10:g.64137725G>C , CM000685.1:g.64137725G>C	GRCh37
NC_000023.9:g.64054450G>C	NCBI36
NG_021200.1:g.63689C>G
NG_021200.2:g.121900C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000492653.6:c.*237C>G	ENSP00000515192.1:n.*237C>G
ENST00000703133.1:c.*1187C>G	ENSP00000515188.1:n.*1187C>G
ENST00000703136.1:c.*571C>G	ENSP00000515190.1:n.*571C>G
ENST00000374839.8:c.613C>G MANE Select	ENSP00000363972.3:p.Leu205Val
ENST00000337990.2:c.544C>G	ENSP00000338650.2:p.Leu182Val
ENST00000374839.7:c.613C>G	ENSP00000363972.3:p.Leu205Val
ENST00000447788.6:c.450C>G	ENSP00000399126.2:p.Leu150=
ENST00000488406.1:n.133C>G
ENST00000488608.5:n.2790C>G
ENST00000488831.5:n.601C>G
ENST00000492653.5:n.741C>G
NM_001178032.2:c.544C>G	NP_001171503.1:p.Leu182Val
NM_001178033.2:c.450C>G	NP_001171504.1:p.Leu150=
NM_001243804.1:c.544C>G	NP_001230733.1:p.Leu182Val
NM_018684.3:c.613C>G	NP_061154.1:p.Leu205Val
NR_045044.1:n.1024C>G
NM_018684.4:c.613C>G MANE Select	NP_061154.1:p.Leu205Val
NM_001178032.3:c.544C>G	NP_001171503.1:p.Leu182Val
NM_001243804.2:c.544C>G	NP_001230733.1:p.Leu182Val
NR_045044.2:n.941C>G
NM_001178033.3:c.450C>G	NP_001171504.1:p.Leu150=