Canonical Allele Identifier: CA436193292
Gene: ZIC1 HGNC NCBI

Linked Data

dbSNP Id: rs1249596705
gnomAD v2: 3-147131209-G-A
gnomAD v4: 3-147413422-G-A
COSMIC: COSM291932
MyVariant Identifiers: chr3:g.147131209G>A (hg19) chr3:g.147413422G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.147413422G>A , CM000665.2:g.147413422G>A GRCh38
NC_000003.11:g.147131209G>A , CM000665.1:g.147131209G>A GRCh37
NC_000003.10:g.148613899G>A NCBI36
NG_015886.1:g.9029G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000282928.5:c.1215G>A MANE Select ENSP00000282928.4:p.Thr405=
ENST00000282928.4:c.1215G>A ENSP00000282928.4:p.Thr405=
ENST00000472523.1:n.521+19480G>A
ENST00000488404.5:c.281G>A
NM_003412.3:c.1215G>A NP_003403.2:p.Thr405=
NM_003412.4:c.1215G>A MANE Select NP_003403.2:p.Thr405=
Search 100 bp 5'
Search 100 bp 3'