Canonical Allele Identifier: CA4481649

Gene: ZC3HC1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.130018692C>T , CM000669.2:g.130018692C>T	GRCh38
NC_000007.13:g.129658532C>T , CM000669.1:g.129658532C>T	GRCh37
NC_000007.12:g.129445768C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_016478.5:c.1481G>A MANE Select	NP_057562.3:p.Arg494Gln
ENST00000358303.9:c.1481G>A MANE Select	ENSP00000351052.4:p.Arg494Gln
NM_001282190.1:c.1418G>A	NP_001269119.1:p.Arg473Gln
NM_001282190.2:c.1418G>A	NP_001269119.1:p.Arg473Gln
NM_001282191.1:c.1268G>A	NP_001269120.1:p.Arg423Gln
NM_001363701.1:c.1352G>A	NP_001350630.1:p.Arg451Gln
NM_016478.4:c.1481G>A	NP_057562.3:p.Arg494Gln
ENST00000311873.9:c.1418G>A	ENSP00000309301.5:p.Arg473Gln
ENST00000358303.8:c.1481G>A	ENSP00000351052.4:p.Arg494Gln
ENST00000360708.9:c.1268G>A	ENSP00000353933.5:p.Arg423Gln
ENST00000467642.5:c.*1365G>A	ENSP00000419509.1:n.*1365G>A
ENST00000481503.5:c.1352G>A	ENSP00000418533.1:p.Arg451Gln
ENST00000648450.1:c.*1491G>A	ENSP00000498166.1:n.*1491G>A
XM_005250403.1:c.1109G>A	XP_005250460.1:p.Arg370Gln
XM_005250403.3:c.1109G>A	XP_005250460.1:p.Arg370Gln
XM_011516288.1:c.1280G>A	XP_011514590.1:p.Arg427Gln
XM_011516288.3:c.1280G>A	XP_011514590.1:p.Arg427Gln
XM_011516289.1:c.1211G>A	XP_011514591.1:p.Arg404Gln
XM_011516289.2:c.1211G>A	XP_011514591.1:p.Arg404Gln
XM_011516290.1:c.977G>A	XP_011514592.1:p.Arg326Gln
XM_011516290.2:c.977G>A	XP_011514592.1:p.Arg326Gln
XM_017012288.1:c.977G>A	XP_016867777.1:p.Arg326Gln
XM_024446792.1:c.1142G>A	XP_024302560.1:p.Arg381Gln