Canonical Allele Identifier: CA645294132
Gene: ZC4H2 HGNC NCBI

Linked Data

ClinVar Variation Id: 427151
ClinVar RCV Id: RCV000489055
dbSNP Id: rs1057520298

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.64921812C>G , CM000685.2:g.64921812C>G GRCh38
NC_000023.10:g.64141692C>G , CM000685.1:g.64141692C>G GRCh37
NC_000023.9:g.64058417C>G NCBI36
NG_021200.1:g.59722G>C
NG_021200.2:g.117933G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000476032.2:c.156+5G>C ENSP00000515193.1:n.156+5G>C
ENST00000492653.6:c.225+5G>C ENSP00000515192.1:n.225+5G>C
ENST00000703133.1:c.*799+5G>C ENSP00000515188.1:n.*799+5G>C
ENST00000703136.1:c.*183+5G>C ENSP00000515190.1:n.*183+5G>C
ENST00000374839.8:c.225+5G>C MANE Select ENSP00000363972.3:n.225+5G>C
ENST00000337990.2:c.156+5G>C ENSP00000338650.2:n.156+5G>C
ENST00000374839.7:c.225+5G>C ENSP00000363972.3:n.225+5G>C
ENST00000447788.6:c.225+5G>C ENSP00000399126.2:n.225+5G>C
ENST00000476032.1:n.466+5G>C
ENST00000488608.5:n.381+5G>C
ENST00000488831.5:n.213+5G>C
ENST00000492653.5:n.321+5G>C
NM_001178032.2:c.156+5G>C NP_001171503.1:n.156+5G>C
NM_001178033.2:c.225+5G>C NP_001171504.1:n.225+5G>C
NM_001243804.1:c.156+5G>C NP_001230733.1:n.156+5G>C
NM_018684.3:c.225+5G>C NP_061154.1:n.225+5G>C
NR_045044.1:n.636+5G>C
NM_018684.4:c.225+5G>C MANE Select NP_061154.1:n.225+5G>C
NM_001178032.3:c.156+5G>C NP_001171503.1:n.156+5G>C
NM_001243804.2:c.156+5G>C NP_001230733.1:n.156+5G>C
NR_045044.2:n.553+5G>C
NM_001178033.3:c.225+5G>C NP_001171504.1:n.225+5G>C