Canonical Allele Identifier: CA413411176
Gene: ZC4H2 HGNC NCBI

Linked Data

dbSNP Id: rs1241477824
gnomAD v2: X-64137734-T-C
gnomAD v3: X-64917854-T-C
gnomAD v4: X-64917854-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.64917854T>C , CM000685.2:g.64917854T>C GRCh38
NC_000023.10:g.64137734T>C , CM000685.1:g.64137734T>C GRCh37
NC_000023.9:g.64054459T>C NCBI36
NG_021200.1:g.63680A>G
NG_021200.2:g.121891A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000492653.6:c.*228A>G ENSP00000515192.1:n.*228A>G
ENST00000703133.1:c.*1178A>G ENSP00000515188.1:n.*1178A>G
ENST00000703136.1:c.*562A>G ENSP00000515190.1:n.*562A>G
ENST00000374839.8:c.604A>G MANE Select ENSP00000363972.3:p.Ile202Val
ENST00000337990.2:c.535A>G ENSP00000338650.2:p.Ile179Val
ENST00000374839.7:c.604A>G ENSP00000363972.3:p.Ile202Val
ENST00000447788.6:c.441A>G ENSP00000399126.2:p.Leu147=
ENST00000488406.1:n.124A>G
ENST00000488608.5:n.2781A>G
ENST00000488831.5:n.592A>G
ENST00000492653.5:n.732A>G
NM_001178032.2:c.535A>G NP_001171503.1:p.Ile179Val
NM_001178033.2:c.441A>G NP_001171504.1:p.Leu147=
NM_001243804.1:c.535A>G NP_001230733.1:p.Ile179Val
NM_018684.3:c.604A>G NP_061154.1:p.Ile202Val
NR_045044.1:n.1015A>G
NM_018684.4:c.604A>G MANE Select NP_061154.1:p.Ile202Val
NM_001178032.3:c.535A>G NP_001171503.1:p.Ile179Val
NM_001243804.2:c.535A>G NP_001230733.1:p.Ile179Val
NR_045044.2:n.932A>G
NM_001178033.3:c.441A>G NP_001171504.1:p.Leu147=