Canonical Allele Identifier: CA413412238

Gene: ZC4H2

Linked Data

• gnomAD v3: X-64921882-G-T
• gnomAD v4: X-64921882-G-T
• MyVariant Identifiers: chrX:g.64141762G>T (hg19) ; chrX:g.64921882G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.64921882G>T , CM000685.2:g.64921882G>T	GRCh38
NC_000023.10:g.64141762G>T , CM000685.1:g.64141762G>T	GRCh37
NC_000023.9:g.64058487G>T	NCBI36
NG_021200.1:g.59652C>A
NG_021200.2:g.117863C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000476032.2:c.91C>A	ENSP00000515193.1:p.Leu31Ile
ENST00000492653.6:c.160C>A	ENSP00000515192.1:p.Leu54Ile
ENST00000703133.1:c.*734C>A	ENSP00000515188.1:n.*734C>A
ENST00000703136.1:c.*118C>A	ENSP00000515190.1:n.*118C>A
ENST00000374839.8:c.160C>A MANE Select	ENSP00000363972.3:p.Leu54Ile
ENST00000337990.2:c.91C>A	ENSP00000338650.2:p.Leu31Ile
ENST00000374839.7:c.160C>A	ENSP00000363972.3:p.Leu54Ile
ENST00000447788.6:c.160C>A	ENSP00000399126.2:p.Leu54Ile
ENST00000476032.1:n.401C>A
ENST00000488608.5:n.316C>A
ENST00000488831.5:n.148C>A
ENST00000492653.5:n.256C>A
NM_001178032.2:c.91C>A	NP_001171503.1:p.Leu31Ile
NM_001178033.2:c.160C>A	NP_001171504.1:p.Leu54Ile
NM_001243804.1:c.91C>A	NP_001230733.1:p.Leu31Ile
NM_018684.3:c.160C>A	NP_061154.1:p.Leu54Ile
NR_045044.1:n.571C>A
NM_018684.4:c.160C>A MANE Select	NP_061154.1:p.Leu54Ile
NM_001178032.3:c.91C>A	NP_001171503.1:p.Leu31Ile
NM_001243804.2:c.91C>A	NP_001230733.1:p.Leu31Ile
NR_045044.2:n.488C>A
NM_001178033.3:c.160C>A	NP_001171504.1:p.Leu54Ile