Canonical Allele Identifier: CA2668109831
Gene: ZIC1 HGNC NCBI

Linked Data

gnomAD v4: 3-147413727-T-G
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.147413727T>G , CM000665.2:g.147413727T>G GRCh38
NC_000003.11:g.147131514T>G , CM000665.1:g.147131514T>G GRCh37
NC_000003.10:g.148614204T>G NCBI36
NG_015886.1:g.9334T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000282928.5:c.*176T>G MANE Select ENSP00000282928.4:n.*176T>G
ENST00000282928.4:c.*176T>G ENSP00000282928.4:n.*176T>G
ENST00000472523.1:n.521+19785T>G
NM_003412.3:c.*176T>G NP_003403.2:n.*176T>G
NM_003412.4:c.*176T>G MANE Select NP_003403.2:n.*176T>G
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