Canonical Allele Identifier: CA413412148

Gene: ZC4H2

Linked Data

• ClinVar Variation Id: 429826
• ClinVar RCV Id: RCV000494211 ; RCV000763627 ; RCV001265964 ; RCV002527090
• dbSNP Id: rs1131691616
• MyVariant Identifiers: chrX:g.64141723G>A (hg19) ; chrX:g.64921843G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.64921843G>A , CM000685.2:g.64921843G>A	GRCh38
NC_000023.10:g.64141723G>A , CM000685.1:g.64141723G>A	GRCh37
NC_000023.9:g.64058448G>A	NCBI36
NG_021200.1:g.59691C>T
NG_021200.2:g.117902C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000476032.2:c.130C>T	ENSP00000515193.1:p.Arg44Ter
ENST00000492653.6:c.199C>T	ENSP00000515192.1:p.Arg67Ter
ENST00000703133.1:c.*773C>T	ENSP00000515188.1:n.*773C>T
ENST00000703136.1:c.*157C>T	ENSP00000515190.1:n.*157C>T
ENST00000374839.8:c.199C>T MANE Select	ENSP00000363972.3:p.Arg67Ter
ENST00000337990.2:c.130C>T	ENSP00000338650.2:p.Arg44Ter
ENST00000374839.7:c.199C>T	ENSP00000363972.3:p.Arg67Ter
ENST00000447788.6:c.199C>T	ENSP00000399126.2:p.Arg67Ter
ENST00000476032.1:n.440C>T
ENST00000488608.5:n.355C>T
ENST00000488831.5:n.187C>T
ENST00000492653.5:n.295C>T
NM_001178032.2:c.130C>T	NP_001171503.1:p.Arg44Ter
NM_001178033.2:c.199C>T	NP_001171504.1:p.Arg67Ter
NM_001243804.1:c.130C>T	NP_001230733.1:p.Arg44Ter
NM_018684.3:c.199C>T	NP_061154.1:p.Arg67Ter
NR_045044.1:n.610C>T
NM_018684.4:c.199C>T MANE Select	NP_061154.1:p.Arg67Ter
NM_001178032.3:c.130C>T	NP_001171503.1:p.Arg44Ter
NM_001243804.2:c.130C>T	NP_001230733.1:p.Arg44Ter
NR_045044.2:n.527C>T
NM_001178033.3:c.199C>T	NP_001171504.1:p.Arg67Ter