Canonical Allele Identifier: CA354898595

Gene: ZIC1

Linked Data

• MyVariant Identifiers: chr3:g.147131256C>T (hg19) ; chr3:g.147413469C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.147413469C>T , CM000665.2:g.147413469C>T	GRCh38
NC_000003.11:g.147131256C>T , CM000665.1:g.147131256C>T	GRCh37
NC_000003.10:g.148613946C>T	NCBI36
NG_015886.1:g.9076C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282928.5:c.1262C>T MANE Select	ENSP00000282928.4:p.Ser421Phe
ENST00000282928.4:c.1262C>T	ENSP00000282928.4:p.Ser421Phe
ENST00000472523.1:n.521+19527C>T
ENST00000488404.5:c.328C>T
NM_003412.3:c.1262C>T	NP_003403.2:p.Ser421Phe
NM_003412.4:c.1262C>T MANE Select	NP_003403.2:p.Ser421Phe