Canonical Allele Identifier: CA16042224
Gene: ZIC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 372162
dbSNP Id: rs1057517668

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.147413372C>T , CM000665.2:g.147413372C>T GRCh38
NC_000003.11:g.147131159C>T , CM000665.1:g.147131159C>T GRCh37
NC_000003.10:g.148613849C>T NCBI36
NG_015886.1:g.8979C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000282928.5:c.1165C>T MANE Select ENSP00000282928.4:p.Gln389Ter
ENST00000282928.4:c.1165C>T ENSP00000282928.4:p.Gln389Ter
ENST00000472523.1:n.521+19430C>T
ENST00000488404.5:c.231C>T
NM_003412.3:c.1165C>T NP_003403.2:p.Gln389Ter
NM_003412.4:c.1165C>T MANE Select NP_003403.2:p.Gln389Ter