ClinGen Allele Registry
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Canonical Allele Identifier:
CA225622552
Gene:
Linked Data
dbSNP Id:
rs17140547
gnomAD v2:
11-80377052-C-T
gnomAD v3:
11-80666008-C-T
gnomAD v4:
11-80666008-C-T
MyVariant Identifiers:
chr11:g.80377052C>T (hg19)
chr11:g.80666008C>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000011.10:g.80666008C>T , CM000673.2:g.80666008C>T
GRCh38
NC_000011.9:g.80377052C>T , CM000673.1:g.80377052C>T
GRCh37
NC_000011.8:g.80054700C>T
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_247272.2:n.125-150170G>A
Search 100 bp 5'
Search 100 bp 3'