Canonical Allele Identifier: CA84582893
Gene: ZIC1 HGNC NCBI

Linked Data

dbSNP Id: rs367995922
gnomAD v4: 3-147413694-C-G
MyVariant Identifiers: chr3:g.147131481C>G (hg19) chr3:g.147413694C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.147413694C>G , CM000665.2:g.147413694C>G GRCh38
NC_000003.11:g.147131481C>G , CM000665.1:g.147131481C>G GRCh37
NC_000003.10:g.148614171C>G NCBI36
NG_015886.1:g.9301C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000282928.5:c.*143C>G MANE Select ENSP00000282928.4:n.*143C>G
ENST00000282928.4:c.*143C>G ENSP00000282928.4:n.*143C>G
ENST00000472523.1:n.521+19752C>G
NM_003412.3:c.*143C>G NP_003403.2:n.*143C>G
NM_003412.4:c.*143C>G MANE Select NP_003403.2:n.*143C>G
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