Canonical Allele Identifier: CA10586047
Gene: ZC4H2 HGNC NCBI

Linked Data

ClinVar Variation Id: 252557
ClinVar RCV Id: RCV000238874
dbSNP Id: rs879255362
MyVariant Identifiers: chrX:g.64137730C>A (hg19) chrX:g.64917850C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.64917850C>A , CM000685.2:g.64917850C>A GRCh38
NC_000023.10:g.64137730C>A , CM000685.1:g.64137730C>A GRCh37
NC_000023.9:g.64054455C>A NCBI36
NG_021200.1:g.63684G>T
NG_021200.2:g.121895G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000492653.6:c.*232G>T ENSP00000515192.1:n.*232G>T
ENST00000703133.1:c.*1182G>T ENSP00000515188.1:n.*1182G>T
ENST00000703136.1:c.*566G>T ENSP00000515190.1:n.*566G>T
ENST00000374839.8:c.608G>T MANE Select ENSP00000363972.3:p.Cys203Phe
ENST00000337990.2:c.539G>T ENSP00000338650.2:p.Cys180Phe
ENST00000374839.7:c.608G>T ENSP00000363972.3:p.Cys203Phe
ENST00000447788.6:c.445G>T ENSP00000399126.2:p.Ala149Ser
ENST00000488406.1:n.128G>T
ENST00000488608.5:n.2785G>T
ENST00000488831.5:n.596G>T
ENST00000492653.5:n.736G>T
NM_001178032.2:c.539G>T NP_001171503.1:p.Cys180Phe
NM_001178033.2:c.445G>T NP_001171504.1:p.Ala149Ser
NM_001243804.1:c.539G>T NP_001230733.1:p.Cys180Phe
NM_018684.3:c.608G>T NP_061154.1:p.Cys203Phe
NR_045044.1:n.1019G>T
NM_018684.4:c.608G>T MANE Select NP_061154.1:p.Cys203Phe
NM_001178032.3:c.539G>T NP_001171503.1:p.Cys180Phe
NM_001243804.2:c.539G>T NP_001230733.1:p.Cys180Phe
NR_045044.2:n.936G>T
NM_001178033.3:c.445G>T NP_001171504.1:p.Ala149Ser
Search 100 bp 5'
Search 100 bp 3'