Canonical Allele Identifier: CA84582266
Gene: ZIC1 HGNC NCBI

Linked Data

dbSNP Id: rs1013117472
gnomAD v3: 3-147413275-G-A
gnomAD v4: 3-147413275-G-A
MyVariant Identifiers: chr3:g.147131062G>A (hg19) chr3:g.147413275G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.147413275G>A , CM000665.2:g.147413275G>A GRCh38
NC_000003.11:g.147131062G>A , CM000665.1:g.147131062G>A GRCh37
NC_000003.10:g.148613752G>A NCBI36
NG_015886.1:g.8882G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000282928.5:c.1147-79G>A MANE Select ENSP00000282928.4:n.1147-79G>A
ENST00000282928.4:c.1147-79G>A ENSP00000282928.4:n.1147-79G>A
ENST00000472523.1:n.521+19333G>A
ENST00000488404.5:c.213-79G>A
NM_003412.3:c.1147-79G>A NP_003403.2:n.1147-79G>A
NM_003412.4:c.1147-79G>A MANE Select NP_003403.2:n.1147-79G>A
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