Canonical Allele Identifier: CA2657224
Gene: ZIC1 HGNC NCBI

Linked Data

dbSNP Id: rs747434309
ExAC: 3:147131251 A / G
gnomAD v2: 3-147131251-A-G
gnomAD v3: 3-147413464-A-G
gnomAD v4: 3-147413464-A-G
MyVariant Identifiers: chr3:g.147131251A>G (hg19) chr3:g.147413464A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.147413464A>G , CM000665.2:g.147413464A>G GRCh38
NC_000003.11:g.147131251A>G , CM000665.1:g.147131251A>G GRCh37
NC_000003.10:g.148613941A>G NCBI36
NG_015886.1:g.9071A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000282928.5:c.1257A>G MANE Select ENSP00000282928.4:p.Thr419=
ENST00000282928.4:c.1257A>G ENSP00000282928.4:p.Thr419=
ENST00000472523.1:n.521+19522A>G
ENST00000488404.5:c.323A>G
NM_003412.3:c.1257A>G NP_003403.2:p.Thr419=
NM_003412.4:c.1257A>G MANE Select NP_003403.2:p.Thr419=
Search 100 bp 5'
Search 100 bp 3'