Canonical Allele Identifier: CA2668109895
Gene: ZIC1 HGNC NCBI

Linked Data

gnomAD v4: 3-147413767-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.147413767C>A , CM000665.2:g.147413767C>A GRCh38
NC_000003.11:g.147131554C>A , CM000665.1:g.147131554C>A GRCh37
NC_000003.10:g.148614244C>A NCBI36
NG_015886.1:g.9374C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000282928.5:c.*216C>A MANE Select ENSP00000282928.4:n.*216C>A
ENST00000282928.4:c.*216C>A ENSP00000282928.4:n.*216C>A
ENST00000472523.1:n.521+19825C>A
NM_003412.3:c.*216C>A NP_003403.2:n.*216C>A
NM_003412.4:c.*216C>A MANE Select NP_003403.2:n.*216C>A
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