Canonical Allele Identifier: CA2657206
Gene: ZIC1 HGNC NCBI

Linked Data

dbSNP Id: rs780450308
ExAC: 3:147131124 C / T
gnomAD v2: 3-147131124-C-T
gnomAD v4: 3-147413337-C-T
MyVariant Identifiers: chr3:g.147131124C>T (hg19) chr3:g.147413337C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.147413337C>T , CM000665.2:g.147413337C>T GRCh38
NC_000003.11:g.147131124C>T , CM000665.1:g.147131124C>T GRCh37
NC_000003.10:g.148613814C>T NCBI36
NG_015886.1:g.8944C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000282928.5:c.1147-17C>T MANE Select ENSP00000282928.4:n.1147-17C>T
ENST00000282928.4:c.1147-17C>T ENSP00000282928.4:n.1147-17C>T
ENST00000472523.1:n.521+19395C>T
ENST00000488404.5:c.213-17C>T
NM_003412.3:c.1147-17C>T NP_003403.2:n.1147-17C>T
NM_003412.4:c.1147-17C>T MANE Select NP_003403.2:n.1147-17C>T
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