Canonical Allele Identifier: CA10529290
Gene: ZIC3 HGNC NCBI

Linked Data

ClinVar Variation Id: 707781
ClinVar RCV Id: RCV001513538
dbSNP Id: rs761546254
ExAC: X:136649270 C / T
gnomAD v2: X-136649270-C-T
gnomAD v3: X-137567111-C-T
gnomAD v4: X-137567111-C-T
MyVariant Identifiers: chrX:g.136649270C>T (hg19) chrX:g.137567111C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.137567111C>T , CM000685.2:g.137567111C>T GRCh38
NC_000023.10:g.136649270C>T , CM000685.1:g.136649270C>T GRCh37
NC_000023.9:g.136476936C>T NCBI36
NG_008115.1:g.5925C>T
NG_008115.2:g.5985C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000287538.10:c.420C>T MANE Select ENSP00000287538.5:p.Phe140=
ENST00000287538.9:c.420C>T ENSP00000287538.5:p.Phe140=
ENST00000370606.3:c.420C>T ENSP00000359638.3:p.Phe140=
NM_003413.3:c.420C>T NP_003404.1:p.Phe140=
NM_001330661.1:c.420C>T NP_001317590.1:p.Phe140=
NM_003413.4:c.420C>T MANE Select NP_003404.1:p.Phe140=
Search 100 bp 5'
Search 100 bp 3'