Canonical Allele Identifier: CA413411178

Gene: ZC4H2

Linked Data

• gnomAD v4: X-64917855-A-C
• MyVariant Identifiers: chrX:g.64137735A>C (hg19) ; chrX:g.64917855A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.64917855A>C , CM000685.2:g.64917855A>C	GRCh38
NC_000023.10:g.64137735A>C , CM000685.1:g.64137735A>C	GRCh37
NC_000023.9:g.64054460A>C	NCBI36
NG_021200.1:g.63679T>G
NG_021200.2:g.121890T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000492653.6:c.*227T>G	ENSP00000515192.1:n.*227T>G
ENST00000703133.1:c.*1177T>G	ENSP00000515188.1:n.*1177T>G
ENST00000703136.1:c.*561T>G	ENSP00000515190.1:n.*561T>G
ENST00000374839.8:c.603T>G MANE Select	ENSP00000363972.3:p.Pro201=
ENST00000337990.2:c.534T>G	ENSP00000338650.2:p.Pro178=
ENST00000374839.7:c.603T>G	ENSP00000363972.3:p.Pro201=
ENST00000447788.6:c.440T>G	ENSP00000399126.2:p.Leu147Arg
ENST00000488406.1:n.123T>G
ENST00000488608.5:n.2780T>G
ENST00000488831.5:n.591T>G
ENST00000492653.5:n.731T>G
NM_001178032.2:c.534T>G	NP_001171503.1:p.Pro178=
NM_001178033.2:c.440T>G	NP_001171504.1:p.Leu147Arg
NM_001243804.1:c.534T>G	NP_001230733.1:p.Pro178=
NM_018684.3:c.603T>G	NP_061154.1:p.Pro201=
NR_045044.1:n.1014T>G
NM_018684.4:c.603T>G MANE Select	NP_061154.1:p.Pro201=
NM_001178032.3:c.534T>G	NP_001171503.1:p.Pro178=
NM_001243804.2:c.534T>G	NP_001230733.1:p.Pro178=
NR_045044.2:n.931T>G
NM_001178033.3:c.440T>G	NP_001171504.1:p.Leu147Arg