ClinGen Allele Registry
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Canonical Allele Identifier:
CA626487392
Gene:
Linked Data
dbSNP Id:
rs138084765
gnomAD v2:
17-48289271-G-T
gnomAD v3:
17-50211910-G-T
gnomAD v4:
17-50211910-G-T
MyVariant Identifiers:
chr17:g.48289271G>T (hg19)
chr17:g.50211910G>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.50211910G>T , CM000679.2:g.50211910G>T
GRCh38
NC_000017.10:g.48289271G>T , CM000679.1:g.48289271G>T
GRCh37
NC_000017.9:g.45644270G>T
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_934838.1:n.43-1925G>T
Search 100 bp 5'
Search 100 bp 3'