Canonical Allele Identifier: CA900395443
Gene: ZIC1 HGNC NCBI

Linked Data

dbSNP Id: rs1376632906
gnomAD v2: 3-147131052-A-C
gnomAD v3: 3-147413265-A-C
gnomAD v4: 3-147413265-A-C
MyVariant Identifiers: chr3:g.147131052A>C (hg19) chr3:g.147413265A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.147413265A>C , CM000665.2:g.147413265A>C GRCh38
NC_000003.11:g.147131052A>C , CM000665.1:g.147131052A>C GRCh37
NC_000003.10:g.148613742A>C NCBI36
NG_015886.1:g.8872A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000282928.5:c.1147-89A>C MANE Select ENSP00000282928.4:n.1147-89A>C
ENST00000282928.4:c.1147-89A>C ENSP00000282928.4:n.1147-89A>C
ENST00000472523.1:n.521+19323A>C
ENST00000488404.5:c.213-89A>C
NM_003412.3:c.1147-89A>C NP_003403.2:n.1147-89A>C
NM_003412.4:c.1147-89A>C MANE Select NP_003403.2:n.1147-89A>C
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