Canonical Allele Identifier: CA330474214
Gene: ZC4H2 HGNC NCBI

Linked Data

dbSNP Id: rs774127647
gnomAD v3: X-64917952-C-A
gnomAD v4: X-64917952-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.64917952C>A , CM000685.2:g.64917952C>A GRCh38
NC_000023.10:g.64137832C>A , CM000685.1:g.64137832C>A GRCh37
NC_000023.9:g.64054557C>A NCBI36
NG_021200.1:g.63582G>T
NG_021200.2:g.121793G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000476032.2:c.493-56G>T ENSP00000515193.1:n.493-56G>T
ENST00000492653.6:c.*186-56G>T ENSP00000515192.1:n.*186-56G>T
ENST00000703133.1:c.*1136-56G>T ENSP00000515188.1:n.*1136-56G>T
ENST00000703136.1:c.*520-56G>T ENSP00000515190.1:n.*520-56G>T
ENST00000374839.8:c.562-56G>T MANE Select ENSP00000363972.3:n.562-56G>T
ENST00000337990.2:c.493-56G>T ENSP00000338650.2:n.493-56G>T
ENST00000374839.7:c.562-56G>T ENSP00000363972.3:n.562-56G>T
ENST00000447788.6:c.399-56G>T ENSP00000399126.2:n.399-56G>T
ENST00000476032.1:n.803-56G>T
ENST00000488406.1:n.82-56G>T
ENST00000488608.5:n.2683G>T
ENST00000488831.5:n.550-56G>T
ENST00000492653.5:n.690-56G>T
NM_001178032.2:c.493-56G>T NP_001171503.1:n.493-56G>T
NM_001178033.2:c.399-56G>T NP_001171504.1:n.399-56G>T
NM_001243804.1:c.493-56G>T NP_001230733.1:n.493-56G>T
NM_018684.3:c.562-56G>T NP_061154.1:n.562-56G>T
NR_045044.1:n.973-56G>T
NM_018684.4:c.562-56G>T MANE Select NP_061154.1:n.562-56G>T
NM_001178032.3:c.493-56G>T NP_001171503.1:n.493-56G>T
NM_001243804.2:c.493-56G>T NP_001230733.1:n.493-56G>T
NR_045044.2:n.890-56G>T
NM_001178033.3:c.399-56G>T NP_001171504.1:n.399-56G>T