Canonical Allele Identifier: CA7300788

Gene: ZC3H14

Linked Data

• dbSNP Id: rs758123649
• ExAC: 14:89077277 C / T
• gnomAD v2: 14-89077277-C-T
• gnomAD v4: 14-88610933-C-T
• MyVariant Identifiers: chr14:g.89077277C>T (hg19) ; chr14:g.88610933C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.88610933C>T , CM000676.2:g.88610933C>T	GRCh38
NC_000014.8:g.89077277C>T , CM000676.1:g.89077277C>T	GRCh37
NC_000014.7:g.88147030C>T	NCBI36
NG_050601.1:g.53025C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251038.10:c.2197C>T MANE Select	ENSP00000251038.5:p.Gln733Ter
ENST00000649731.1:c.*1405C>T	ENSP00000497757.1:n.*1405C>T
ENST00000251038.9:c.2197C>T	ENSP00000251038.5:p.Gln733Ter
ENST00000302216.12:c.1726C>T	ENSP00000307025.8:p.Gln576Ter
ENST00000318308.10:c.907C>T	ENSP00000327176.6:p.Gln303Ter
ENST00000336693.8:c.1702C>T	ENSP00000338002.4:p.Gln568Ter
ENST00000393514.9:c.2122C>T	ENSP00000377150.5:p.Gln708Ter
ENST00000406216.7:c.835C>T	ENSP00000384682.3:p.Gln279Ter
ENST00000554020.5:n.1040C>T
ENST00000555755.5:c.2179C>T	ENSP00000452475.1:p.Gln727Ter
ENST00000555792.1:c.442C>T	ENSP00000450823.1:p.Gln148Ter
ENST00000555851.6:n.356C>T
ENST00000555900.5:c.1303C>T	ENSP00000451530.1:p.Gln435Ter
ENST00000556000.5:c.1941C>T
ENST00000556945.5:c.1804C>T	ENSP00000450474.1:p.Gln602Ter
ENST00000557491.1:n.1482C>T
ENST00000557607.5:c.1249C>T	ENSP00000452370.1:p.Gln417Ter
NM_001160103.1:c.2194C>T	NP_001153575.1:p.Gln732Ter
NM_001160104.1:c.2179C>T	NP_001153576.1:p.Gln727Ter
NM_024824.4:c.2197C>T	NP_079100.2:p.Gln733Ter
NM_207660.3:c.1726C>T	NP_997543.1:p.Gln576Ter
NM_207661.2:c.1702C>T	NP_997544.1:p.Gln568Ter
NM_207662.3:c.907C>T	NP_997545.2:p.Gln303Ter
XM_005268067.3:c.2182C>T	XP_005268124.1:p.Gln728Ter
XM_005268068.3:c.2122C>T	XP_005268125.1:p.Gln708Ter
XM_005268069.3:c.1804C>T	XP_005268126.1:p.Gln602Ter
XM_005268070.3:c.1801C>T	XP_005268127.1:p.Gln601Ter
XM_005268071.3:c.1729C>T	XP_005268128.1:p.Gln577Ter
XM_005268073.3:c.1303C>T	XP_005268130.1:p.Gln435Ter
XM_006720257.2:c.1228C>T	XP_006720320.1:p.Gln410Ter
XM_011537160.1:c.2095C>T	XP_011535462.1:p.Gln699Ter
XM_011537161.1:c.2041C>T	XP_011535463.1:p.Gln681Ter
NM_001326295.1:c.1804C>T	NP_001313224.1:p.Gln602Ter
NM_001326296.1:c.2119C>T	NP_001313225.1:p.Gln707Ter
NM_001326297.1:c.2095C>T	NP_001313226.1:p.Gln699Ter
NM_001326298.1:c.1729C>T	NP_001313227.1:p.Gln577Ter
NM_001326299.1:c.2104C>T	NP_001313228.1:p.Gln702Ter
NM_001326300.1:c.1732C>T	NP_001313229.1:p.Gln578Ter
NM_001326301.1:c.2020C>T	NP_001313230.1:p.Gln674Ter
NM_001326302.1:c.1729C>T	NP_001313231.1:p.Gln577Ter
NM_001326303.1:c.1624C>T	NP_001313232.1:p.Gln542Ter
NM_001326304.1:c.1336C>T	NP_001313233.1:p.Gln446Ter
NM_001326305.1:c.1657C>T	NP_001313234.1:p.Gln553Ter
NM_001326306.1:c.1570C>T	NP_001313235.1:p.Gln524Ter
NM_001326307.1:c.2122C>T	NP_001313236.1:p.Gln708Ter
NM_001326308.1:c.1339C>T	NP_001313237.1:p.Gln447Ter
NM_001326309.1:c.1264C>T	NP_001313238.1:p.Gln422Ter
NM_001326310.1:c.2182C>T	NP_001313239.1:p.Gln728Ter
NM_001326311.1:c.1261C>T	NP_001313240.1:p.Gln421Ter
NM_001326312.1:c.2107C>T	NP_001313241.1:p.Gln703Ter
NM_001326313.1:c.1573C>T	NP_001313242.1:p.Gln525Ter
NM_001326314.1:c.1654C>T	NP_001313243.1:p.Gln552Ter
NM_001326315.1:c.2092C>T	NP_001313244.1:p.Gln698Ter
NM_001326316.1:c.2092C>T	NP_001313245.1:p.Gln698Ter
NR_136936.1:n.2262C>T
XM_005268070.5:c.1801C>T	XP_005268127.1:p.Gln601Ter
XM_005268073.4:c.1303C>T	XP_005268130.1:p.Gln435Ter
XM_006720257.3:c.1228C>T	XP_006720320.1:p.Gln410Ter
XM_011537161.3:c.2041C>T	XP_011535463.1:p.Gln681Ter
XM_024449713.1:c.1225C>T	XP_024305481.1:p.Gln409Ter
NM_024824.5:c.2197C>T MANE Select	NP_079100.2:p.Gln733Ter
NM_001160103.2:c.2194C>T	NP_001153575.1:p.Gln732Ter
NM_001160104.2:c.2179C>T	NP_001153576.1:p.Gln727Ter
NM_001326295.2:c.1804C>T	NP_001313224.1:p.Gln602Ter
NM_001326296.2:c.2119C>T	NP_001313225.1:p.Gln707Ter
NM_001326297.2:c.2095C>T	NP_001313226.1:p.Gln699Ter
NM_001326298.2:c.1729C>T	NP_001313227.1:p.Gln577Ter
NM_001326299.2:c.2104C>T	NP_001313228.1:p.Gln702Ter
NM_001326300.2:c.1732C>T	NP_001313229.1:p.Gln578Ter
NM_001326301.2:c.2020C>T	NP_001313230.1:p.Gln674Ter
NM_001326302.2:c.1729C>T	NP_001313231.1:p.Gln577Ter
NM_001326303.2:c.1624C>T	NP_001313232.1:p.Gln542Ter
NM_001326304.2:c.1336C>T	NP_001313233.1:p.Gln446Ter
NM_001326305.2:c.1657C>T	NP_001313234.1:p.Gln553Ter
NM_001326306.2:c.1570C>T	NP_001313235.1:p.Gln524Ter
NM_001326307.2:c.2122C>T	NP_001313236.1:p.Gln708Ter
NM_001326308.2:c.1339C>T	NP_001313237.1:p.Gln447Ter
NM_001326309.2:c.1264C>T	NP_001313238.1:p.Gln422Ter
NM_001326310.2:c.2182C>T	NP_001313239.1:p.Gln728Ter
NM_001326311.2:c.1261C>T	NP_001313240.1:p.Gln421Ter
NM_001326312.2:c.2107C>T	NP_001313241.1:p.Gln703Ter
NM_001326313.2:c.1573C>T	NP_001313242.1:p.Gln525Ter
NM_001326314.2:c.1654C>T	NP_001313243.1:p.Gln552Ter
NM_001326315.2:c.2092C>T	NP_001313244.1:p.Gln698Ter
NM_207660.4:c.1726C>T	NP_997543.1:p.Gln576Ter
NM_207662.4:c.907C>T	NP_997545.2:p.Gln303Ter
NR_136936.2:n.2134C>T
NM_001326316.2:c.2092C>T	NP_001313245.1:p.Gln698Ter
NM_207661.3:c.1702C>T	NP_997544.1:p.Gln568Ter