Canonical Allele Identifier: CA546921930
Gene: ZIC1 HGNC NCBI

Linked Data

dbSNP Id: rs1327720324
gnomAD v2: 3-147131084-T-C
gnomAD v3: 3-147413297-T-C
gnomAD v4: 3-147413297-T-C
MyVariant Identifiers: chr3:g.147131084T>C (hg19) chr3:g.147413297T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.147413297T>C , CM000665.2:g.147413297T>C GRCh38
NC_000003.11:g.147131084T>C , CM000665.1:g.147131084T>C GRCh37
NC_000003.10:g.148613774T>C NCBI36
NG_015886.1:g.8904T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000282928.5:c.1147-57T>C MANE Select ENSP00000282928.4:n.1147-57T>C
ENST00000282928.4:c.1147-57T>C ENSP00000282928.4:n.1147-57T>C
ENST00000472523.1:n.521+19355T>C
ENST00000488404.5:c.213-57T>C
NM_003412.3:c.1147-57T>C NP_003403.2:n.1147-57T>C
NM_003412.4:c.1147-57T>C MANE Select NP_003403.2:n.1147-57T>C
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