Canonical Allele Identifier: CA15229258
Gene: ZIC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1281058
ClinVar RCV Id: RCV001691190
dbSNP Id: rs4467417
gnomAD v2: 3-147131502-G-A
gnomAD v3: 3-147413715-G-A
gnomAD v4: 3-147413715-G-A
MyVariant Identifiers: chr3:g.147131502G>A (hg19) chr3:g.147413715G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.147413715G>A , CM000665.2:g.147413715G>A GRCh38
NC_000003.11:g.147131502G>A , CM000665.1:g.147131502G>A GRCh37
NC_000003.10:g.148614192G>A NCBI36
NG_015886.1:g.9322G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000282928.5:c.*164G>A MANE Select ENSP00000282928.4:n.*164G>A
ENST00000282928.4:c.*164G>A ENSP00000282928.4:n.*164G>A
ENST00000472523.1:n.521+19773G>A
NM_003412.3:c.*164G>A NP_003403.2:n.*164G>A
NM_003412.4:c.*164G>A MANE Select NP_003403.2:n.*164G>A
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