Canonical Allele Identifier: CA281608
Gene: ZIC3 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 11438
ClinVar RCV Id: RCV000012191
dbSNP Id: rs104894962

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.137569054A>G , CM000685.2:g.137569054A>G GRCh38
NC_000023.10:g.136651213A>G , CM000685.1:g.136651213A>G GRCh37
NC_000023.9:g.136478879A>G NCBI36
NG_008115.1:g.7868A>G
NG_008115.2:g.7928A>G

Transcript Alleles

HGVS Amino-acid change
NM_003413.3:c.1213A>G VV NP_003404.1:p.Lys405Glu
NM_001330661.1:c.1213A>G VV NP_001317590.1:p.Lys405Glu
NM_003413.4:c.1213A>G VV MANE Preferred
ENST00000287538.9:c.1213A>G ENSP00000287538.5:p.Lys405Glu
ENST00000370606.3:c.1213A>G ENSP00000359638.3:p.Lys405Glu
ENST00000478471.1:n.250A>G