Canonical Allele Identifier: CA413411210

Gene: ZC4H2

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.64917866G>A , CM000685.2:g.64917866G>A	GRCh38
NC_000023.10:g.64137746G>A , CM000685.1:g.64137746G>A	GRCh37
NC_000023.9:g.64054471G>A	NCBI36
NG_021200.1:g.63668C>T
NG_021200.2:g.121879C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_018684.4:c.592C>T MANE Select	NP_061154.1:p.Arg198Trp
ENST00000374839.8:c.592C>T MANE Select	ENSP00000363972.3:p.Arg198Trp
NM_001178032.2:c.523C>T	NP_001171503.1:p.Arg175Trp
NM_001178032.3:c.523C>T	NP_001171503.1:p.Arg175Trp
NM_001178033.2:c.429C>T	NP_001171504.1:p.Thr143=
NM_001178033.3:c.429C>T	NP_001171504.1:p.Thr143=
NM_001243804.1:c.523C>T	NP_001230733.1:p.Arg175Trp
NM_001243804.2:c.523C>T	NP_001230733.1:p.Arg175Trp
NM_018684.3:c.592C>T	NP_061154.1:p.Arg198Trp
NR_045044.1:n.1003C>T
NR_045044.2:n.920C>T
ENST00000337990.2:c.523C>T	ENSP00000338650.2:p.Arg175Trp
ENST00000374839.7:c.592C>T	ENSP00000363972.3:p.Arg198Trp
ENST00000447788.6:c.429C>T	ENSP00000399126.2:p.Thr143=
ENST00000476032.1:n.833C>T
ENST00000476032.2:c.523C>T	ENSP00000515193.1:p.Arg175Trp
ENST00000488406.1:n.112C>T
ENST00000488608.5:n.2769C>T
ENST00000488831.5:n.580C>T
ENST00000492653.5:n.720C>T
ENST00000492653.6:c.*216C>T	ENSP00000515192.1:n.*216C>T
ENST00000703133.1:c.*1166C>T	ENSP00000515188.1:n.*1166C>T
ENST00000703136.1:c.*550C>T	ENSP00000515190.1:n.*550C>T