Canonical Allele Identifier: CA2657231
Gene: ZIC1 HGNC NCBI

Linked Data

dbSNP Id: rs142514189
ExAC: 3:147131269 C / T
gnomAD v2: 3-147131269-C-T
gnomAD v4: 3-147413482-C-T
MyVariant Identifiers: chr3:g.147131269C>T (hg19) chr3:g.147413482C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.147413482C>T , CM000665.2:g.147413482C>T GRCh38
NC_000003.11:g.147131269C>T , CM000665.1:g.147131269C>T GRCh37
NC_000003.10:g.148613959C>T NCBI36
NG_015886.1:g.9089C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000282928.5:c.1275C>T MANE Select ENSP00000282928.4:p.Ser425=
ENST00000282928.4:c.1275C>T ENSP00000282928.4:p.Ser425=
ENST00000472523.1:n.521+19540C>T
ENST00000488404.5:c.341C>T
NM_003412.3:c.1275C>T NP_003403.2:p.Ser425=
NM_003412.4:c.1275C>T MANE Select NP_003403.2:p.Ser425=
Search 100 bp 5'
Search 100 bp 3'