Canonical Allele Identifier: CA2668109892
Gene: ZIC1 HGNC NCBI

Linked Data

gnomAD v4: 3-147413765-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.147413765G>T , CM000665.2:g.147413765G>T GRCh38
NC_000003.11:g.147131552G>T , CM000665.1:g.147131552G>T GRCh37
NC_000003.10:g.148614242G>T NCBI36
NG_015886.1:g.9372G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000282928.5:c.*214G>T MANE Select ENSP00000282928.4:n.*214G>T
ENST00000282928.4:c.*214G>T ENSP00000282928.4:n.*214G>T
ENST00000472523.1:n.521+19823G>T
NM_003412.3:c.*214G>T NP_003403.2:n.*214G>T
NM_003412.4:c.*214G>T MANE Select NP_003403.2:n.*214G>T
Search 100 bp 5'
Search 100 bp 3'