ClinGen Allele Registry
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Canonical Allele Identifier:
CA14488113
Gene: CASC17
HGNC
NCBI
Linked Data
dbSNP Id:
rs11654749
gnomAD v2:
17-69125606-G-T
gnomAD v3:
17-71129465-G-T
gnomAD v4:
17-71129465-G-T
MyVariant Identifiers:
chr17:g.69125606G>T (hg19)
chr17:g.71129465G>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.71129465G>T , CM000679.2:g.71129465G>T
GRCh38
NC_000017.10:g.69125606G>T , CM000679.1:g.69125606G>T
GRCh37
NC_000017.9:g.66637201G>T
NCBI36
Transcript Alleles
HGVS
Amino-acid change
NR_104152.1:n.217+2925C>A
Search 100 bp 5'
Search 100 bp 3'