Canonical Allele Identifier: CA547365413
Gene: ZIC1 HGNC NCBI

Linked Data

dbSNP Id: rs1368701465
gnomAD v2: 3-147131535-A-T
gnomAD v3: 3-147413748-A-T
gnomAD v4: 3-147413748-A-T
MyVariant Identifiers: chr3:g.147131535A>T (hg19) chr3:g.147413748A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.147413748A>T , CM000665.2:g.147413748A>T GRCh38
NC_000003.11:g.147131535A>T , CM000665.1:g.147131535A>T GRCh37
NC_000003.10:g.148614225A>T NCBI36
NG_015886.1:g.9355A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000282928.5:c.*197A>T MANE Select ENSP00000282928.4:n.*197A>T
ENST00000282928.4:c.*197A>T ENSP00000282928.4:n.*197A>T
ENST00000472523.1:n.521+19806A>T
NM_003412.3:c.*197A>T NP_003403.2:n.*197A>T
NM_003412.4:c.*197A>T MANE Select NP_003403.2:n.*197A>T
Search 100 bp 5'
Search 100 bp 3'