ClinGen Allele Registry
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Canonical Allele Identifier:
CA11446791
Gene:
Linked Data
dbSNP Id:
rs4532099
gnomAD v2:
3-72315956-T-C
gnomAD v3:
3-72266805-T-C
gnomAD v4:
3-72266805-T-C
MyVariant Identifiers:
chr3:g.72315956T>C (hg19)
chr3:g.72266805T>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.72266805T>C , CM000665.2:g.72266805T>C
GRCh38
NC_000003.11:g.72315956T>C , CM000665.1:g.72315956T>C
GRCh37
NC_000003.10:g.72398646T>C
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_940958.1:n.835+8303A>G
Search 100 bp 5'
Search 100 bp 3'