Canonical Allele Identifier: CA84582903
Gene: ZIC1 HGNC NCBI

Linked Data

dbSNP Id: rs952398328
gnomAD v2: 3-147131513-T-C
gnomAD v3: 3-147413726-T-C
gnomAD v4: 3-147413726-T-C
MyVariant Identifiers: chr3:g.147131513T>C (hg19) chr3:g.147413726T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.147413726T>C , CM000665.2:g.147413726T>C GRCh38
NC_000003.11:g.147131513T>C , CM000665.1:g.147131513T>C GRCh37
NC_000003.10:g.148614203T>C NCBI36
NG_015886.1:g.9333T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000282928.5:c.*175T>C MANE Select ENSP00000282928.4:n.*175T>C
ENST00000282928.4:c.*175T>C ENSP00000282928.4:n.*175T>C
ENST00000472523.1:n.521+19784T>C
NM_003412.3:c.*175T>C NP_003403.2:n.*175T>C
NM_003412.4:c.*175T>C MANE Select NP_003403.2:n.*175T>C
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