Canonical Allele Identifier: CA4481748

Gene: ZC3HC1

Linked Data - Expert Curation

Linked Data - Predicted Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.130023656C>T , CM000669.2:g.130023656C>T	GRCh38
NC_000007.13:g.129663496C>T , CM000669.1:g.129663496C>T	GRCh37
NC_000007.12:g.129450732C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358303.9:c.1088G>A MANE Select	ENSP00000351052.4:p.Arg363His
ENST00000648450.1:c.*1098G>A	ENSP00000498166.1:n.*1098G>A
ENST00000311873.9:c.1025G>A	ENSP00000309301.5:p.Arg342His
ENST00000358303.8:c.1088G>A	ENSP00000351052.4:p.Arg363His
ENST00000360708.9:c.1020+607G>A	ENSP00000353933.5:n.1020+607G>A
ENST00000467642.5:c.*972G>A	ENSP00000419509.1:n.*972G>A
ENST00000477578.5:n.758G>A
ENST00000481503.5:c.959G>A	ENSP00000418533.1:p.Arg320His
NM_001282190.1:c.1025G>A	NP_001269119.1:p.Arg342His
NM_001282191.1:c.1020+607G>A	NP_001269120.1:n.1020+607G>A
NM_016478.4:c.1088G>A	NP_057562.3:p.Arg363His
XM_005250403.1:c.716G>A	XP_005250460.1:p.Arg239His
XM_011516288.1:c.887G>A	XP_011514590.1:p.Arg296His
XM_011516289.1:c.818G>A	XP_011514591.1:p.Arg273His
XM_011516290.1:c.584G>A	XP_011514592.1:p.Arg195His
NM_001363701.1:c.959G>A	NP_001350630.1:p.Arg320His
XM_005250403.3:c.716G>A	XP_005250460.1:p.Arg239His
XM_011516288.3:c.887G>A	XP_011514590.1:p.Arg296His
XM_011516289.2:c.818G>A	XP_011514591.1:p.Arg273His
XM_011516290.2:c.584G>A	XP_011514592.1:p.Arg195His
XM_017012288.1:c.584G>A	XP_016867777.1:p.Arg195His
XM_024446792.1:c.749G>A	XP_024302560.1:p.Arg250His
NM_016478.5:c.1088G>A MANE Select	NP_057562.3:p.Arg363His
NM_001282190.2:c.1025G>A	NP_001269119.1:p.Arg342His