Canonical Allele Identifier: CA2657219
Gene: ZIC1 HGNC NCBI

Linked Data

dbSNP Id: rs757317244
ExAC: 3:147131228 C / T
gnomAD v3: 3-147413441-C-T
gnomAD v4: 3-147413441-C-T
MyVariant Identifiers: chr3:g.147131228C>T (hg19) chr3:g.147413441C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.147413441C>T , CM000665.2:g.147413441C>T GRCh38
NC_000003.11:g.147131228C>T , CM000665.1:g.147131228C>T GRCh37
NC_000003.10:g.148613918C>T NCBI36
NG_015886.1:g.9048C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000282928.5:c.1234C>T MANE Select ENSP00000282928.4:p.Pro412Ser
ENST00000282928.4:c.1234C>T ENSP00000282928.4:p.Pro412Ser
ENST00000472523.1:n.521+19499C>T
ENST00000488404.5:c.300C>T
NM_003412.3:c.1234C>T NP_003403.2:p.Pro412Ser
NM_003412.4:c.1234C>T MANE Select NP_003403.2:p.Pro412Ser
Search 100 bp 5'
Search 100 bp 3'