ClinGen Allele Registry
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Canonical Allele Identifier:
CA608536298
Gene: CENPIP1
HGNC
NCBI
Linked Data
dbSNP Id:
rs1174492664
gnomAD v2:
13-19705067-T-C
gnomAD v3:
13-19130927-T-C
gnomAD v4:
13-19130927-T-C
MyVariant Identifiers:
chr13:g.19705067T>C (hg19)
chr13:g.19130927T>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000013.11:g.19130927T>C , CM000675.2:g.19130927T>C
GRCh38
NC_000013.10:g.19705067T>C , CM000675.1:g.19705067T>C
GRCh37
NC_000013.9:g.18603067T>C
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000425713.1:n.493-365T>C
Search 100 bp 5'
Search 100 bp 3'