Canonical Allele Identifier: CA413412144

Gene: ZC4H2

Linked Data

• gnomAD v4: X-64921840-G-C
• MyVariant Identifiers: chrX:g.64141720G>C (hg19) ; chrX:g.64921840G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.64921840G>C , CM000685.2:g.64921840G>C	GRCh38
NC_000023.10:g.64141720G>C , CM000685.1:g.64141720G>C	GRCh37
NC_000023.9:g.64058445G>C	NCBI36
NG_021200.1:g.59694C>G
NG_021200.2:g.117905C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000476032.2:c.133C>G	ENSP00000515193.1:p.Leu45Val
ENST00000492653.6:c.202C>G	ENSP00000515192.1:p.Leu68Val
ENST00000703133.1:c.*776C>G	ENSP00000515188.1:n.*776C>G
ENST00000703136.1:c.*160C>G	ENSP00000515190.1:n.*160C>G
ENST00000374839.8:c.202C>G MANE Select	ENSP00000363972.3:p.Leu68Val
ENST00000337990.2:c.133C>G	ENSP00000338650.2:p.Leu45Val
ENST00000374839.7:c.202C>G	ENSP00000363972.3:p.Leu68Val
ENST00000447788.6:c.202C>G	ENSP00000399126.2:p.Leu68Val
ENST00000476032.1:n.443C>G
ENST00000488608.5:n.358C>G
ENST00000488831.5:n.190C>G
ENST00000492653.5:n.298C>G
NM_001178032.2:c.133C>G	NP_001171503.1:p.Leu45Val
NM_001178033.2:c.202C>G	NP_001171504.1:p.Leu68Val
NM_001243804.1:c.133C>G	NP_001230733.1:p.Leu45Val
NM_018684.3:c.202C>G	NP_061154.1:p.Leu68Val
NR_045044.1:n.613C>G
NM_018684.4:c.202C>G MANE Select	NP_061154.1:p.Leu68Val
NM_001178032.3:c.133C>G	NP_001171503.1:p.Leu45Val
NM_001243804.2:c.133C>G	NP_001230733.1:p.Leu45Val
NR_045044.2:n.530C>G
NM_001178033.3:c.202C>G	NP_001171504.1:p.Leu68Val