ClinGen Allele Registry
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Canonical Allele Identifier:
CA13140149
Gene:
Linked Data
dbSNP Id:
rs17135159
gnomAD v2:
10-3408947-A-C
gnomAD v3:
10-3366755-A-C
gnomAD v4:
10-3366755-A-C
MyVariant Identifiers:
chr10:g.3408947A>C (hg19)
chr10:g.3366755A>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000010.11:g.3366755A>C , CM000672.2:g.3366755A>C
GRCh38
NC_000010.10:g.3408947A>C , CM000672.1:g.3408947A>C
GRCh37
NC_000010.9:g.3398947A>C
NCBI36
Transcript Alleles
HGVS
Amino-acid change
NR_131187.1:n.162+47899A>C
Search 100 bp 5'
Search 100 bp 3'