Canonical Allele Identifier: CA2657204
Gene: ZIC1 HGNC NCBI

Linked Data

dbSNP Id: rs368899236
ExAC: 3:147131115 G / C
gnomAD v2: 3-147131115-G-C
gnomAD v3: 3-147413328-G-C
gnomAD v4: 3-147413328-G-C
MyVariant Identifiers: chr3:g.147131115G>C (hg19) chr3:g.147413328G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.147413328G>C , CM000665.2:g.147413328G>C GRCh38
NC_000003.11:g.147131115G>C , CM000665.1:g.147131115G>C GRCh37
NC_000003.10:g.148613805G>C NCBI36
NG_015886.1:g.8935G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000282928.5:c.1147-26G>C MANE Select ENSP00000282928.4:n.1147-26G>C
ENST00000282928.4:c.1147-26G>C ENSP00000282928.4:n.1147-26G>C
ENST00000472523.1:n.521+19386G>C
ENST00000488404.5:c.213-26G>C
NM_003412.3:c.1147-26G>C NP_003403.2:n.1147-26G>C
NM_003412.4:c.1147-26G>C MANE Select NP_003403.2:n.1147-26G>C
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