Canonical Allele Identifier: CA390566188

Gene: ZC3H14

Linked Data

• gnomAD v4: 14-88610900-C-T
• MyVariant Identifiers: chr14:g.89077244C>T (hg19) ; chr14:g.88610900C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.88610900C>T , CM000676.2:g.88610900C>T	GRCh38
NC_000014.8:g.89077244C>T , CM000676.1:g.89077244C>T	GRCh37
NC_000014.7:g.88146997C>T	NCBI36
NG_050601.1:g.52992C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251038.10:c.2164C>T MANE Select	ENSP00000251038.5:p.Pro722Ser
ENST00000649731.1:c.*1372C>T	ENSP00000497757.1:n.*1372C>T
ENST00000251038.9:c.2164C>T	ENSP00000251038.5:p.Pro722Ser
ENST00000302216.12:c.1693C>T	ENSP00000307025.8:p.Pro565Ser
ENST00000318308.10:c.874C>T	ENSP00000327176.6:p.Pro292Ser
ENST00000336693.8:c.1669C>T	ENSP00000338002.4:p.Pro557Ser
ENST00000393514.9:c.2089C>T	ENSP00000377150.5:p.Pro697Ser
ENST00000406216.7:c.802C>T	ENSP00000384682.3:p.Pro268Ser
ENST00000554020.5:n.1007C>T
ENST00000555755.5:c.2146C>T	ENSP00000452475.1:p.Pro716Ser
ENST00000555792.1:c.409C>T	ENSP00000450823.1:p.Pro137Ser
ENST00000555851.6:n.323C>T
ENST00000555900.5:c.1270C>T	ENSP00000451530.1:p.Pro424Ser
ENST00000556000.5:c.1908C>T
ENST00000556945.5:c.1771C>T	ENSP00000450474.1:p.Pro591Ser
ENST00000557491.1:n.1449C>T
ENST00000557607.5:c.1216C>T	ENSP00000452370.1:p.Pro406Ser
NM_001160103.1:c.2161C>T	NP_001153575.1:p.Pro721Ser
NM_001160104.1:c.2146C>T	NP_001153576.1:p.Pro716Ser
NM_024824.4:c.2164C>T	NP_079100.2:p.Pro722Ser
NM_207660.3:c.1693C>T	NP_997543.1:p.Pro565Ser
NM_207661.2:c.1669C>T	NP_997544.1:p.Pro557Ser
NM_207662.3:c.874C>T	NP_997545.2:p.Pro292Ser
XM_005268067.3:c.2149C>T	XP_005268124.1:p.Pro717Ser
XM_005268068.3:c.2089C>T	XP_005268125.1:p.Pro697Ser
XM_005268069.3:c.1771C>T	XP_005268126.1:p.Pro591Ser
XM_005268070.3:c.1768C>T	XP_005268127.1:p.Pro590Ser
XM_005268071.3:c.1696C>T	XP_005268128.1:p.Pro566Ser
XM_005268073.3:c.1270C>T	XP_005268130.1:p.Pro424Ser
XM_006720257.2:c.1195C>T	XP_006720320.1:p.Pro399Ser
XM_011537160.1:c.2062C>T	XP_011535462.1:p.Pro688Ser
XM_011537161.1:c.2008C>T	XP_011535463.1:p.Pro670Ser
NM_001326295.1:c.1771C>T	NP_001313224.1:p.Pro591Ser
NM_001326296.1:c.2086C>T	NP_001313225.1:p.Pro696Ser
NM_001326297.1:c.2062C>T	NP_001313226.1:p.Pro688Ser
NM_001326298.1:c.1696C>T	NP_001313227.1:p.Pro566Ser
NM_001326299.1:c.2071C>T	NP_001313228.1:p.Pro691Ser
NM_001326300.1:c.1699C>T	NP_001313229.1:p.Pro567Ser
NM_001326301.1:c.1987C>T	NP_001313230.1:p.Pro663Ser
NM_001326302.1:c.1696C>T	NP_001313231.1:p.Pro566Ser
NM_001326303.1:c.1591C>T	NP_001313232.1:p.Pro531Ser
NM_001326304.1:c.1303C>T	NP_001313233.1:p.Pro435Ser
NM_001326305.1:c.1624C>T	NP_001313234.1:p.Pro542Ser
NM_001326306.1:c.1537C>T	NP_001313235.1:p.Pro513Ser
NM_001326307.1:c.2089C>T	NP_001313236.1:p.Pro697Ser
NM_001326308.1:c.1306C>T	NP_001313237.1:p.Pro436Ser
NM_001326309.1:c.1231C>T	NP_001313238.1:p.Pro411Ser
NM_001326310.1:c.2149C>T	NP_001313239.1:p.Pro717Ser
NM_001326311.1:c.1228C>T	NP_001313240.1:p.Pro410Ser
NM_001326312.1:c.2074C>T	NP_001313241.1:p.Pro692Ser
NM_001326313.1:c.1540C>T	NP_001313242.1:p.Pro514Ser
NM_001326314.1:c.1621C>T	NP_001313243.1:p.Pro541Ser
NM_001326315.1:c.2059C>T	NP_001313244.1:p.Pro687Ser
NM_001326316.1:c.2059C>T	NP_001313245.1:p.Pro687Ser
NR_136936.1:n.2229C>T
XM_005268070.5:c.1768C>T	XP_005268127.1:p.Pro590Ser
XM_005268073.4:c.1270C>T	XP_005268130.1:p.Pro424Ser
XM_006720257.3:c.1195C>T	XP_006720320.1:p.Pro399Ser
XM_011537161.3:c.2008C>T	XP_011535463.1:p.Pro670Ser
XM_024449713.1:c.1192C>T	XP_024305481.1:p.Pro398Ser
NM_024824.5:c.2164C>T MANE Select	NP_079100.2:p.Pro722Ser
NM_001160103.2:c.2161C>T	NP_001153575.1:p.Pro721Ser
NM_001160104.2:c.2146C>T	NP_001153576.1:p.Pro716Ser
NM_001326295.2:c.1771C>T	NP_001313224.1:p.Pro591Ser
NM_001326296.2:c.2086C>T	NP_001313225.1:p.Pro696Ser
NM_001326297.2:c.2062C>T	NP_001313226.1:p.Pro688Ser
NM_001326298.2:c.1696C>T	NP_001313227.1:p.Pro566Ser
NM_001326299.2:c.2071C>T	NP_001313228.1:p.Pro691Ser
NM_001326300.2:c.1699C>T	NP_001313229.1:p.Pro567Ser
NM_001326301.2:c.1987C>T	NP_001313230.1:p.Pro663Ser
NM_001326302.2:c.1696C>T	NP_001313231.1:p.Pro566Ser
NM_001326303.2:c.1591C>T	NP_001313232.1:p.Pro531Ser
NM_001326304.2:c.1303C>T	NP_001313233.1:p.Pro435Ser
NM_001326305.2:c.1624C>T	NP_001313234.1:p.Pro542Ser
NM_001326306.2:c.1537C>T	NP_001313235.1:p.Pro513Ser
NM_001326307.2:c.2089C>T	NP_001313236.1:p.Pro697Ser
NM_001326308.2:c.1306C>T	NP_001313237.1:p.Pro436Ser
NM_001326309.2:c.1231C>T	NP_001313238.1:p.Pro411Ser
NM_001326310.2:c.2149C>T	NP_001313239.1:p.Pro717Ser
NM_001326311.2:c.1228C>T	NP_001313240.1:p.Pro410Ser
NM_001326312.2:c.2074C>T	NP_001313241.1:p.Pro692Ser
NM_001326313.2:c.1540C>T	NP_001313242.1:p.Pro514Ser
NM_001326314.2:c.1621C>T	NP_001313243.1:p.Pro541Ser
NM_001326315.2:c.2059C>T	NP_001313244.1:p.Pro687Ser
NM_207660.4:c.1693C>T	NP_997543.1:p.Pro565Ser
NM_207662.4:c.874C>T	NP_997545.2:p.Pro292Ser
NR_136936.2:n.2101C>T
NM_001326316.2:c.2059C>T	NP_001313245.1:p.Pro687Ser
NM_207661.3:c.1669C>T	NP_997544.1:p.Pro557Ser