Canonical Allele Identifier: CA547365407
Gene: ZIC1 HGNC NCBI

Linked Data

dbSNP Id: rs760011347
gnomAD v2: 3-147131390-C-A
MyVariant Identifiers: chr3:g.147131390C>A (hg19) chr3:g.147413603C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.147413603C>A , CM000665.2:g.147413603C>A GRCh38
NC_000003.11:g.147131390C>A , CM000665.1:g.147131390C>A GRCh37
NC_000003.10:g.148614080C>A NCBI36
NG_015886.1:g.9210C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000282928.5:c.*52C>A MANE Select ENSP00000282928.4:n.*52C>A
ENST00000282928.4:c.*52C>A ENSP00000282928.4:n.*52C>A
ENST00000472523.1:n.521+19661C>A
ENST00000488404.5:c.462C>A
NM_003412.3:c.*52C>A NP_003403.2:n.*52C>A
NM_003412.4:c.*52C>A MANE Select NP_003403.2:n.*52C>A
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