Canonical Allele Identifier: CA413411009
Gene: ZC4H2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.64917795C>A , CM000685.2:g.64917795C>A GRCh38
NC_000023.10:g.64137675C>A , CM000685.1:g.64137675C>A GRCh37
NC_000023.9:g.64054400C>A NCBI36
NG_021200.1:g.63739G>T
NG_021200.2:g.121950G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000492653.6:c.*287G>T ENSP00000515192.1:n.*287G>T
ENST00000703133.1:c.*1237G>T ENSP00000515188.1:n.*1237G>T
ENST00000703136.1:c.*621G>T ENSP00000515190.1:n.*621G>T
ENST00000374839.8:c.663G>T MANE Select ENSP00000363972.3:p.Lys221Asn
ENST00000337990.2:c.594G>T ENSP00000338650.2:p.Lys198Asn
ENST00000374839.7:c.663G>T ENSP00000363972.3:p.Lys221Asn
ENST00000447788.6:c.500G>T ENSP00000399126.2:p.Ser167Ile
ENST00000488406.1:n.183G>T
ENST00000488608.5:n.2840G>T
ENST00000492653.5:n.791G>T
NM_001178032.2:c.594G>T NP_001171503.1:p.Lys198Asn
NM_001178033.2:c.500G>T NP_001171504.1:p.Ser167Ile
NM_001243804.1:c.594G>T NP_001230733.1:p.Lys198Asn
NM_018684.3:c.663G>T NP_061154.1:p.Lys221Asn
NR_045044.1:n.1074G>T
NM_018684.4:c.663G>T MANE Select NP_061154.1:p.Lys221Asn
NM_001178032.3:c.594G>T NP_001171503.1:p.Lys198Asn
NM_001243804.2:c.594G>T NP_001230733.1:p.Lys198Asn
NR_045044.2:n.991G>T
NM_001178033.3:c.500G>T NP_001171504.1:p.Ser167Ile