Canonical Allele Identifier: CA354898423
Gene: ZIC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 452670
ClinVar RCV Id: RCV000519963
dbSNP Id: rs1193142978
gnomAD v2: 3-147131171-C-G
gnomAD v3: 3-147413384-C-G
gnomAD v4: 3-147413384-C-G
MyVariant Identifiers: chr3:g.147131171C>G (hg19) chr3:g.147413384C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.147413384C>G , CM000665.2:g.147413384C>G GRCh38
NC_000003.11:g.147131171C>G , CM000665.1:g.147131171C>G GRCh37
NC_000003.10:g.148613861C>G NCBI36
NG_015886.1:g.8991C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000282928.5:c.1177C>G MANE Select ENSP00000282928.4:p.Pro393Ala
ENST00000282928.4:c.1177C>G ENSP00000282928.4:p.Pro393Ala
ENST00000472523.1:n.521+19442C>G
ENST00000488404.5:c.243C>G
NM_003412.3:c.1177C>G NP_003403.2:p.Pro393Ala
NM_003412.4:c.1177C>G MANE Select NP_003403.2:p.Pro393Ala
Search 100 bp 5'
Search 100 bp 3'