ClinGen Allele Registry
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Canonical Allele Identifier:
CA13756040
Gene:
Linked Data
dbSNP Id:
rs4761659
gnomAD v2:
12-93687084-T-C
gnomAD v3:
12-93293308-T-C
gnomAD v4:
12-93293308-T-C
MyVariant Identifiers:
chr12:g.93687084T>C (hg19)
chr12:g.93293308T>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.93293308T>C , CM000674.2:g.93293308T>C
GRCh38
NC_000012.11:g.93687084T>C , CM000674.1:g.93687084T>C
GRCh37
NC_000012.10:g.92211215T>C
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
NR_040096.1:n.329+34719A>G
Search 100 bp 5'
Search 100 bp 3'