Canonical Allele Identifier: CA413412358

Gene: ZC4H2

Linked Data

• ClinVar Variation Id: 2916332
• ClinVar RCV Id: RCV003740382
• dbSNP Id: rs1478527937
• gnomAD v3: X-64921933-C-T
• gnomAD v4: X-64921933-C-T
• MyVariant Identifiers: chrX:g.64141813C>T (hg19) ; chrX:g.64921933C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.64921933C>T , CM000685.2:g.64921933C>T	GRCh38
NC_000023.10:g.64141813C>T , CM000685.1:g.64141813C>T	GRCh37
NC_000023.9:g.64058538C>T	NCBI36
NG_021200.1:g.59601G>A
NG_021200.2:g.117812G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000476032.2:c.40G>A	ENSP00000515193.1:p.Ala14Thr
ENST00000492653.6:c.109G>A	ENSP00000515192.1:p.Ala37Thr
ENST00000703133.1:c.*683G>A	ENSP00000515188.1:n.*683G>A
ENST00000703136.1:c.*67G>A	ENSP00000515190.1:n.*67G>A
ENST00000374839.8:c.109G>A MANE Select	ENSP00000363972.3:p.Ala37Thr
ENST00000337990.2:c.40G>A	ENSP00000338650.2:p.Ala14Thr
ENST00000374839.7:c.109G>A	ENSP00000363972.3:p.Ala37Thr
ENST00000447788.6:c.109G>A	ENSP00000399126.2:p.Ala37Thr
ENST00000476032.1:n.350G>A
ENST00000488608.5:n.265G>A
ENST00000488831.5:n.97G>A
ENST00000492653.5:n.205G>A
NM_001178032.2:c.40G>A	NP_001171503.1:p.Ala14Thr
NM_001178033.2:c.109G>A	NP_001171504.1:p.Ala37Thr
NM_001243804.1:c.40G>A	NP_001230733.1:p.Ala14Thr
NM_018684.3:c.109G>A	NP_061154.1:p.Ala37Thr
NR_045044.1:n.520G>A
NM_018684.4:c.109G>A MANE Select	NP_061154.1:p.Ala37Thr
NM_001178032.3:c.40G>A	NP_001171503.1:p.Ala14Thr
NM_001243804.2:c.40G>A	NP_001230733.1:p.Ala14Thr
NR_045044.2:n.437G>A
NM_001178033.3:c.109G>A	NP_001171504.1:p.Ala37Thr