Canonical Allele Identifier: CA354898549

Gene: ZIC1

Linked Data

• COSMIC: COSM6214585
• MyVariant Identifiers: chr3:g.147131235C>A (hg19) ; chr3:g.147413448C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.147413448C>A , CM000665.2:g.147413448C>A	GRCh38
NC_000003.11:g.147131235C>A , CM000665.1:g.147131235C>A	GRCh37
NC_000003.10:g.148613925C>A	NCBI36
NG_015886.1:g.9055C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282928.5:c.1241C>A MANE Select	ENSP00000282928.4:p.Thr414Lys
ENST00000282928.4:c.1241C>A	ENSP00000282928.4:p.Thr414Lys
ENST00000472523.1:n.521+19506C>A
ENST00000488404.5:c.307C>A
NM_003412.3:c.1241C>A	NP_003403.2:p.Thr414Lys
NM_003412.4:c.1241C>A MANE Select	NP_003403.2:p.Thr414Lys