Canonical Allele Identifier: CA900396229
Gene: ZIC1 HGNC NCBI

Linked Data

dbSNP Id: rs1458118073
gnomAD v4: 3-147413718-T-A
MyVariant Identifiers: chr3:g.147131505T>A (hg19) chr3:g.147413718T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.147413718T>A , CM000665.2:g.147413718T>A GRCh38
NC_000003.11:g.147131505T>A , CM000665.1:g.147131505T>A GRCh37
NC_000003.10:g.148614195T>A NCBI36
NG_015886.1:g.9325T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000282928.5:c.*167T>A MANE Select ENSP00000282928.4:n.*167T>A
ENST00000282928.4:c.*167T>A ENSP00000282928.4:n.*167T>A
ENST00000472523.1:n.521+19776T>A
NM_003412.3:c.*167T>A NP_003403.2:n.*167T>A
NM_003412.4:c.*167T>A MANE Select NP_003403.2:n.*167T>A
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