Canonical Allele Identifier: CA207229

Gene: ZC3H14

Linked Data

• ClinVar Variation Id: 212623
• ClinVar RCV Id: RCV000193628 ; RCV000761891
• dbSNP Id: rs139980286
• ExAC: 14:89077209 C / T
• gnomAD v2: 14-89077209-C-T
• gnomAD v3: 14-88610865-C-T
• gnomAD v4: 14-88610865-C-T
• MyVariant Identifiers: chr14:g.89077209C>T (hg19) ; chr14:g.88610865C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.88610865C>T , CM000676.2:g.88610865C>T	GRCh38
NC_000014.8:g.89077209C>T , CM000676.1:g.89077209C>T	GRCh37
NC_000014.7:g.88146962C>T	NCBI36
NG_050601.1:g.52957C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251038.10:c.2129C>T MANE Select	ENSP00000251038.5:p.Pro710Leu
ENST00000649731.1:c.*1337C>T	ENSP00000497757.1:n.*1337C>T
ENST00000251038.9:c.2129C>T	ENSP00000251038.5:p.Pro710Leu
ENST00000302216.12:c.1658C>T	ENSP00000307025.8:p.Pro553Leu
ENST00000318308.10:c.839C>T	ENSP00000327176.6:p.Pro280Leu
ENST00000336693.8:c.1634C>T	ENSP00000338002.4:p.Pro545Leu
ENST00000393514.9:c.2054C>T	ENSP00000377150.5:p.Pro685Leu
ENST00000406216.7:c.767C>T	ENSP00000384682.3:p.Pro256Leu
ENST00000554020.5:n.972C>T
ENST00000555755.5:c.2111C>T	ENSP00000452475.1:p.Pro704Leu
ENST00000555792.1:c.374C>T	ENSP00000450823.1:p.Pro125Leu
ENST00000555851.6:n.288C>T
ENST00000555900.5:c.1235C>T	ENSP00000451530.1:p.Pro412Leu
ENST00000556000.5:c.1873C>T
ENST00000556945.5:c.1736C>T	ENSP00000450474.1:p.Pro579Leu
ENST00000557491.1:n.1414C>T
ENST00000557607.5:c.1181C>T	ENSP00000452370.1:p.Pro394Leu
NM_001160103.1:c.2126C>T	NP_001153575.1:p.Pro709Leu
NM_001160104.1:c.2111C>T	NP_001153576.1:p.Pro704Leu
NM_024824.4:c.2129C>T	NP_079100.2:p.Pro710Leu
NM_207660.3:c.1658C>T	NP_997543.1:p.Pro553Leu
NM_207661.2:c.1634C>T	NP_997544.1:p.Pro545Leu
NM_207662.3:c.839C>T	NP_997545.2:p.Pro280Leu
XM_005268067.3:c.2114C>T	XP_005268124.1:p.Pro705Leu
XM_005268068.3:c.2054C>T	XP_005268125.1:p.Pro685Leu
XM_005268069.3:c.1736C>T	XP_005268126.1:p.Pro579Leu
XM_005268070.3:c.1733C>T	XP_005268127.1:p.Pro578Leu
XM_005268071.3:c.1661C>T	XP_005268128.1:p.Pro554Leu
XM_005268073.3:c.1235C>T	XP_005268130.1:p.Pro412Leu
XM_006720257.2:c.1160C>T	XP_006720320.1:p.Pro387Leu
XM_011537160.1:c.2027C>T	XP_011535462.1:p.Pro676Leu
XM_011537161.1:c.1973C>T	XP_011535463.1:p.Pro658Leu
NM_001326295.1:c.1736C>T	NP_001313224.1:p.Pro579Leu
NM_001326296.1:c.2051C>T	NP_001313225.1:p.Pro684Leu
NM_001326297.1:c.2027C>T	NP_001313226.1:p.Pro676Leu
NM_001326298.1:c.1661C>T	NP_001313227.1:p.Pro554Leu
NM_001326299.1:c.2036C>T	NP_001313228.1:p.Pro679Leu
NM_001326300.1:c.1664C>T	NP_001313229.1:p.Pro555Leu
NM_001326301.1:c.1952C>T	NP_001313230.1:p.Pro651Leu
NM_001326302.1:c.1661C>T	NP_001313231.1:p.Pro554Leu
NM_001326303.1:c.1556C>T	NP_001313232.1:p.Pro519Leu
NM_001326304.1:c.1268C>T	NP_001313233.1:p.Pro423Leu
NM_001326305.1:c.1589C>T	NP_001313234.1:p.Pro530Leu
NM_001326306.1:c.1502C>T	NP_001313235.1:p.Pro501Leu
NM_001326307.1:c.2054C>T	NP_001313236.1:p.Pro685Leu
NM_001326308.1:c.1271C>T	NP_001313237.1:p.Pro424Leu
NM_001326309.1:c.1196C>T	NP_001313238.1:p.Pro399Leu
NM_001326310.1:c.2114C>T	NP_001313239.1:p.Pro705Leu
NM_001326311.1:c.1193C>T	NP_001313240.1:p.Pro398Leu
NM_001326312.1:c.2039C>T	NP_001313241.1:p.Pro680Leu
NM_001326313.1:c.1505C>T	NP_001313242.1:p.Pro502Leu
NM_001326314.1:c.1586C>T	NP_001313243.1:p.Pro529Leu
NM_001326315.1:c.2024C>T	NP_001313244.1:p.Pro675Leu
NM_001326316.1:c.2024C>T	NP_001313245.1:p.Pro675Leu
NR_136936.1:n.2194C>T
XM_005268070.5:c.1733C>T	XP_005268127.1:p.Pro578Leu
XM_005268073.4:c.1235C>T	XP_005268130.1:p.Pro412Leu
XM_006720257.3:c.1160C>T	XP_006720320.1:p.Pro387Leu
XM_011537161.3:c.1973C>T	XP_011535463.1:p.Pro658Leu
XM_024449713.1:c.1157C>T	XP_024305481.1:p.Pro386Leu
NM_024824.5:c.2129C>T MANE Select	NP_079100.2:p.Pro710Leu
NM_001160103.2:c.2126C>T	NP_001153575.1:p.Pro709Leu
NM_001160104.2:c.2111C>T	NP_001153576.1:p.Pro704Leu
NM_001326295.2:c.1736C>T	NP_001313224.1:p.Pro579Leu
NM_001326296.2:c.2051C>T	NP_001313225.1:p.Pro684Leu
NM_001326297.2:c.2027C>T	NP_001313226.1:p.Pro676Leu
NM_001326298.2:c.1661C>T	NP_001313227.1:p.Pro554Leu
NM_001326299.2:c.2036C>T	NP_001313228.1:p.Pro679Leu
NM_001326300.2:c.1664C>T	NP_001313229.1:p.Pro555Leu
NM_001326301.2:c.1952C>T	NP_001313230.1:p.Pro651Leu
NM_001326302.2:c.1661C>T	NP_001313231.1:p.Pro554Leu
NM_001326303.2:c.1556C>T	NP_001313232.1:p.Pro519Leu
NM_001326304.2:c.1268C>T	NP_001313233.1:p.Pro423Leu
NM_001326305.2:c.1589C>T	NP_001313234.1:p.Pro530Leu
NM_001326306.2:c.1502C>T	NP_001313235.1:p.Pro501Leu
NM_001326307.2:c.2054C>T	NP_001313236.1:p.Pro685Leu
NM_001326308.2:c.1271C>T	NP_001313237.1:p.Pro424Leu
NM_001326309.2:c.1196C>T	NP_001313238.1:p.Pro399Leu
NM_001326310.2:c.2114C>T	NP_001313239.1:p.Pro705Leu
NM_001326311.2:c.1193C>T	NP_001313240.1:p.Pro398Leu
NM_001326312.2:c.2039C>T	NP_001313241.1:p.Pro680Leu
NM_001326313.2:c.1505C>T	NP_001313242.1:p.Pro502Leu
NM_001326314.2:c.1586C>T	NP_001313243.1:p.Pro529Leu
NM_001326315.2:c.2024C>T	NP_001313244.1:p.Pro675Leu
NM_207660.4:c.1658C>T	NP_997543.1:p.Pro553Leu
NM_207662.4:c.839C>T	NP_997545.2:p.Pro280Leu
NR_136936.2:n.2066C>T
NM_001326316.2:c.2024C>T	NP_001313245.1:p.Pro675Leu
NM_207661.3:c.1634C>T	NP_997544.1:p.Pro545Leu