Canonical Allele Identifier: CA84582858
Gene: ZIC1 HGNC NCBI

Linked Data

dbSNP Id: rs953407408
gnomAD v2: 3-147131462-A-T
gnomAD v3: 3-147413675-A-T
gnomAD v4: 3-147413675-A-T
MyVariant Identifiers: chr3:g.147131462A>T (hg19) chr3:g.147413675A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.147413675A>T , CM000665.2:g.147413675A>T GRCh38
NC_000003.11:g.147131462A>T , CM000665.1:g.147131462A>T GRCh37
NC_000003.10:g.148614152A>T NCBI36
NG_015886.1:g.9282A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000282928.5:c.*124A>T MANE Select ENSP00000282928.4:n.*124A>T
ENST00000282928.4:c.*124A>T ENSP00000282928.4:n.*124A>T
ENST00000472523.1:n.521+19733A>T
ENST00000488404.5:c.534A>T
NM_003412.3:c.*124A>T NP_003403.2:n.*124A>T
NM_003412.4:c.*124A>T MANE Select NP_003403.2:n.*124A>T
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