Canonical Allele Identifier: CA900396181
Gene: ZIC1 HGNC NCBI

Linked Data

dbSNP Id: rs1168681773
gnomAD v3: 3-147413633-C-G
gnomAD v4: 3-147413633-C-G
MyVariant Identifiers: chr3:g.147131420C>G (hg19) chr3:g.147413633C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.147413633C>G , CM000665.2:g.147413633C>G GRCh38
NC_000003.11:g.147131420C>G , CM000665.1:g.147131420C>G GRCh37
NC_000003.10:g.148614110C>G NCBI36
NG_015886.1:g.9240C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000282928.5:c.*82C>G MANE Select ENSP00000282928.4:n.*82C>G
ENST00000282928.4:c.*82C>G ENSP00000282928.4:n.*82C>G
ENST00000472523.1:n.521+19691C>G
ENST00000488404.5:c.492C>G
NM_003412.3:c.*82C>G NP_003403.2:n.*82C>G
NM_003412.4:c.*82C>G MANE Select NP_003403.2:n.*82C>G
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