ClinGen Allele Registry
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Canonical Allele Identifier:
CA15082067
Gene:
Linked Data
dbSNP Id:
rs1146509
gnomAD v2:
1-95029581-G-T
gnomAD v3:
1-94564025-G-T
gnomAD v4:
1-94564025-G-T
MyVariant Identifiers:
chr1:g.95029581G>T (hg19)
chr1:g.94564025G>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.94564025G>T , CM000663.2:g.94564025G>T
GRCh38
NC_000001.10:g.95029581G>T , CM000663.1:g.95029581G>T
GRCh37
NC_000001.9:g.94802169G>T
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_001738161.1:n.461+412G>T
Search 100 bp 5'
Search 100 bp 3'