Canonical Allele Identifier: CA2657205
Gene: ZIC1 HGNC NCBI

Linked Data

dbSNP Id: rs758709776
ExAC: 3:147131117 A / G
gnomAD v2: 3-147131117-A-G
gnomAD v4: 3-147413330-A-G
MyVariant Identifiers: chr3:g.147131117A>G (hg19) chr3:g.147413330A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.147413330A>G , CM000665.2:g.147413330A>G GRCh38
NC_000003.11:g.147131117A>G , CM000665.1:g.147131117A>G GRCh37
NC_000003.10:g.148613807A>G NCBI36
NG_015886.1:g.8937A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000282928.5:c.1147-24A>G MANE Select ENSP00000282928.4:n.1147-24A>G
ENST00000282928.4:c.1147-24A>G ENSP00000282928.4:n.1147-24A>G
ENST00000472523.1:n.521+19388A>G
ENST00000488404.5:c.213-24A>G
NM_003412.3:c.1147-24A>G NP_003403.2:n.1147-24A>G
NM_003412.4:c.1147-24A>G MANE Select NP_003403.2:n.1147-24A>G
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