Canonical Allele Identifier: CA354898442
Gene: ZIC1 HGNC NCBI

Linked Data

gnomAD v4: 3-147413393-G-A
MyVariant Identifiers: chr3:g.147131180G>A (hg19) chr3:g.147413393G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.147413393G>A , CM000665.2:g.147413393G>A GRCh38
NC_000003.11:g.147131180G>A , CM000665.1:g.147131180G>A GRCh37
NC_000003.10:g.148613870G>A NCBI36
NG_015886.1:g.9000G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000282928.5:c.1186G>A MANE Select ENSP00000282928.4:p.Ala396Thr
ENST00000282928.4:c.1186G>A ENSP00000282928.4:p.Ala396Thr
ENST00000472523.1:n.521+19451G>A
ENST00000488404.5:c.252G>A
NM_003412.3:c.1186G>A NP_003403.2:p.Ala396Thr
NM_003412.4:c.1186G>A MANE Select NP_003403.2:p.Ala396Thr
Search 100 bp 5'
Search 100 bp 3'