Canonical Allele Identifier: CA2657230
Gene: ZIC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 722702
ClinVar RCV Id: RCV000896376 RCV003958057
dbSNP Id: rs142514189
ExAC: 3:147131269 C / G
gnomAD v2: 3-147131269-C-G
gnomAD v3: 3-147413482-C-G
gnomAD v4: 3-147413482-C-G
MyVariant Identifiers: chr3:g.147131269C>G (hg19) chr3:g.147413482C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.147413482C>G , CM000665.2:g.147413482C>G GRCh38
NC_000003.11:g.147131269C>G , CM000665.1:g.147131269C>G GRCh37
NC_000003.10:g.148613959C>G NCBI36
NG_015886.1:g.9089C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000282928.5:c.1275C>G MANE Select ENSP00000282928.4:p.Ser425=
ENST00000282928.4:c.1275C>G ENSP00000282928.4:p.Ser425=
ENST00000472523.1:n.521+19540C>G
ENST00000488404.5:c.341C>G
NM_003412.3:c.1275C>G NP_003403.2:p.Ser425=
NM_003412.4:c.1275C>G MANE Select NP_003403.2:p.Ser425=
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