Canonical Allele Identifier: CA1409289529
Gene: ZIC1 HGNC NCBI

Linked Data

dbSNP Id: rs2087396783
gnomAD v3: 3-147413132-C-T
gnomAD v4: 3-147413132-C-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.147413132C>T , CM000665.2:g.147413132C>T GRCh38
NC_000003.11:g.147130919C>T , CM000665.1:g.147130919C>T GRCh37
NC_000003.10:g.148613609C>T NCBI36
NG_015886.1:g.8739C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000282928.5:c.1147-222C>T MANE Select ENSP00000282928.4:n.1147-222C>T
ENST00000282928.4:c.1147-222C>T ENSP00000282928.4:n.1147-222C>T
ENST00000472523.1:n.521+19190C>T
ENST00000488404.5:c.213-222C>T
NM_003412.3:c.1147-222C>T NP_003403.2:n.1147-222C>T
NM_003412.4:c.1147-222C>T MANE Select NP_003403.2:n.1147-222C>T
Search 100 bp 5'
Search 100 bp 3'