Canonical Allele Identifier: CA900396213
Gene: ZIC1 HGNC NCBI

Linked Data

dbSNP Id: rs1431157874
gnomAD v4: 3-147413702-A-G
MyVariant Identifiers: chr3:g.147131489A>G (hg19) chr3:g.147413702A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.147413702A>G , CM000665.2:g.147413702A>G GRCh38
NC_000003.11:g.147131489A>G , CM000665.1:g.147131489A>G GRCh37
NC_000003.10:g.148614179A>G NCBI36
NG_015886.1:g.9309A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000282928.5:c.*151A>G MANE Select ENSP00000282928.4:n.*151A>G
ENST00000282928.4:c.*151A>G ENSP00000282928.4:n.*151A>G
ENST00000472523.1:n.521+19760A>G
NM_003412.3:c.*151A>G NP_003403.2:n.*151A>G
NM_003412.4:c.*151A>G MANE Select NP_003403.2:n.*151A>G
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