ClinGen Allele Registry
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Canonical Allele Identifier:
CA220896448
Gene:
Linked Data
dbSNP Id:
rs11034653
gnomAD v2:
11-38288593-C-T
gnomAD v3:
11-38267043-C-T
gnomAD v4:
11-38267043-C-T
MyVariant Identifiers:
chr11:g.38288593C>T (hg19)
chr11:g.38267043C>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000011.10:g.38267043C>T , CM000673.2:g.38267043C>T
GRCh38
NC_000011.9:g.38288593C>T , CM000673.1:g.38288593C>T
GRCh37
NC_000011.8:g.38245169C>T
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_931202.1:n.303+58132G>A
Search 100 bp 5'
Search 100 bp 3'