Canonical Allele Identifier: CA16042223
Gene: ZIC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 372161
ClinVar RCV Id: RCV000412516
dbSNP Id: rs1057517667

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.147413370C>A , CM000665.2:g.147413370C>A GRCh38
NC_000003.11:g.147131157C>A , CM000665.1:g.147131157C>A GRCh37
NC_000003.10:g.148613847C>A NCBI36
NG_015886.1:g.8977C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000282928.5:c.1163C>A MANE Select ENSP00000282928.4:p.Ser388Ter
ENST00000282928.4:c.1163C>A ENSP00000282928.4:p.Ser388Ter
ENST00000472523.1:n.521+19428C>A
ENST00000488404.5:c.229C>A
NM_003412.3:c.1163C>A NP_003403.2:p.Ser388Ter
NM_003412.4:c.1163C>A MANE Select NP_003403.2:p.Ser388Ter