ClinGen Allele Registry
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Canonical Allele Identifier:
CA15461913
Gene:
Linked Data
dbSNP Id:
rs11970286
gnomAD v2:
6-118680374-C-T
gnomAD v3:
6-118359211-C-T
gnomAD v4:
6-118359211-C-T
MyVariant Identifiers:
chr6:g.118680374C>T (hg19)
chr6:g.118359211C>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.118359211C>T , CM000668.2:g.118359211C>T
GRCh38
NC_000006.11:g.118680374C>T , CM000668.1:g.118680374C>T
GRCh37
NC_000006.10:g.118787067C>T
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_942915.1:n.189-23113G>A
Search 100 bp 5'
Search 100 bp 3'