Canonical Allele Identifier: CA436193107

Gene: ZIC1

Linked Data

• gnomAD v4: 3-147413389-G-T
• MyVariant Identifiers: chr3:g.147131176G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.147413389G>T , CM000665.2:g.147413389G>T	GRCh38
NC_000003.11:g.147131176G>T , CM000665.1:g.147131176G>T	GRCh37
NC_000003.10:g.148613866G>T	NCBI36
NG_015886.1:g.8996G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282928.5:c.1182G>T MANE Select	ENSP00000282928.4:p.Ser394=
ENST00000282928.4:c.1182G>T	ENSP00000282928.4:p.Ser394=
ENST00000472523.1:n.521+19447G>T
ENST00000488404.5:c.248G>T
NM_003412.3:c.1182G>T	NP_003403.2:p.Ser394=
NM_003412.4:c.1182G>T MANE Select	NP_003403.2:p.Ser394=