Canonical Allele Identifier: CA84582219

Gene: ZIC1

Linked Data

• dbSNP Id: rs903370337
• gnomAD v2: 3-147130998-C-A
• gnomAD v3: 3-147413211-C-A
• gnomAD v4: 3-147413211-C-A
• MyVariant Identifiers: chr3:g.147130998C>A (hg19) ; chr3:g.147413211C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.147413211C>A , CM000665.2:g.147413211C>A	GRCh38
NC_000003.11:g.147130998C>A , CM000665.1:g.147130998C>A	GRCh37
NC_000003.10:g.148613688C>A	NCBI36
NG_015886.1:g.8818C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282928.5:c.1147-143C>A MANE Select	ENSP00000282928.4:n.1147-143C>A
ENST00000282928.4:c.1147-143C>A	ENSP00000282928.4:n.1147-143C>A
ENST00000472523.1:n.521+19269C>A
ENST00000488404.5:c.213-143C>A
NM_003412.3:c.1147-143C>A	NP_003403.2:n.1147-143C>A
NM_003412.4:c.1147-143C>A MANE Select	NP_003403.2:n.1147-143C>A