Canonical Allele Identifier: CA413412174
Gene: ZC4H2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.64921855C>A , CM000685.2:g.64921855C>A GRCh38
NC_000023.10:g.64141735C>A , CM000685.1:g.64141735C>A GRCh37
NC_000023.9:g.64058460C>A NCBI36
NG_021200.1:g.59679G>T
NG_021200.2:g.117890G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000476032.2:c.118G>T ENSP00000515193.1:p.Val40Leu
ENST00000492653.6:c.187G>T ENSP00000515192.1:p.Val63Leu
ENST00000703133.1:c.*761G>T ENSP00000515188.1:n.*761G>T
ENST00000703136.1:c.*145G>T ENSP00000515190.1:n.*145G>T
ENST00000374839.8:c.187G>T MANE Select ENSP00000363972.3:p.Val63Leu
ENST00000337990.2:c.118G>T ENSP00000338650.2:p.Val40Leu
ENST00000374839.7:c.187G>T ENSP00000363972.3:p.Val63Leu
ENST00000447788.6:c.187G>T ENSP00000399126.2:p.Val63Leu
ENST00000476032.1:n.428G>T
ENST00000488608.5:n.343G>T
ENST00000488831.5:n.175G>T
ENST00000492653.5:n.283G>T
NM_001178032.2:c.118G>T NP_001171503.1:p.Val40Leu
NM_001178033.2:c.187G>T NP_001171504.1:p.Val63Leu
NM_001243804.1:c.118G>T NP_001230733.1:p.Val40Leu
NM_018684.3:c.187G>T NP_061154.1:p.Val63Leu
NR_045044.1:n.598G>T
NM_018684.4:c.187G>T MANE Select NP_061154.1:p.Val63Leu
NM_001178032.3:c.118G>T NP_001171503.1:p.Val40Leu
NM_001243804.2:c.118G>T NP_001230733.1:p.Val40Leu
NR_045044.2:n.515G>T
NM_001178033.3:c.187G>T NP_001171504.1:p.Val63Leu