Canonical Allele Identifier: CA354898547
Gene: ZIC1 HGNC NCBI

Linked Data

gnomAD v4: 3-147413447-A-T
MyVariant Identifiers: chr3:g.147131234A>T (hg19) chr3:g.147413447A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.147413447A>T , CM000665.2:g.147413447A>T GRCh38
NC_000003.11:g.147131234A>T , CM000665.1:g.147131234A>T GRCh37
NC_000003.10:g.148613924A>T NCBI36
NG_015886.1:g.9054A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000282928.5:c.1240A>T MANE Select ENSP00000282928.4:p.Thr414Ser
ENST00000282928.4:c.1240A>T ENSP00000282928.4:p.Thr414Ser
ENST00000472523.1:n.521+19505A>T
ENST00000488404.5:c.306A>T
NM_003412.3:c.1240A>T NP_003403.2:p.Thr414Ser
NM_003412.4:c.1240A>T MANE Select NP_003403.2:p.Thr414Ser
Search 100 bp 5'
Search 100 bp 3'