ClinGen Allele Registry
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Canonical Allele Identifier:
CA11651523
Gene:
Linked Data
dbSNP Id:
rs1458038
gnomAD v2:
4-81164723-C-T
gnomAD v3:
4-80243569-C-T
gnomAD v4:
4-80243569-C-T
MyVariant Identifiers:
chr4:g.81164723C>T (hg19)
chr4:g.80243569C>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.80243569C>T , CM000666.2:g.80243569C>T
GRCh38
NC_000004.11:g.81164723C>T , CM000666.1:g.81164723C>T
GRCh37
NC_000004.10:g.81383747C>T
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_938930.1:n.186+11283C>T
Search 100 bp 5'
Search 100 bp 3'