Canonical Allele Identifier: CA354898375

Gene: ZIC1

Linked Data

• COSMIC: COSM1270934
• MyVariant Identifiers: chr3:g.147131148A>T (hg19) ; chr3:g.147413361A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.147413361A>T , CM000665.2:g.147413361A>T	GRCh38
NC_000003.11:g.147131148A>T , CM000665.1:g.147131148A>T	GRCh37
NC_000003.10:g.148613838A>T	NCBI36
NG_015886.1:g.8968A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282928.5:c.1154A>T MANE Select	ENSP00000282928.4:p.Glu385Val
ENST00000282928.4:c.1154A>T	ENSP00000282928.4:p.Glu385Val
ENST00000472523.1:n.521+19419A>T
ENST00000488404.5:c.220A>T
NM_003412.3:c.1154A>T	NP_003403.2:p.Glu385Val
NM_003412.4:c.1154A>T MANE Select	NP_003403.2:p.Glu385Val