ClinGen Allele Registry
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Canonical Allele Identifier:
CA10857392
Gene:
Linked Data
dbSNP Id:
rs320461
gnomAD v2:
1-213597841-T-C
gnomAD v3:
1-213424498-T-C
gnomAD v4:
1-213424498-T-C
MyVariant Identifiers:
chr1:g.213597841T>C (hg19)
chr1:g.213424498T>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.213424498T>C , CM000663.2:g.213424498T>C
GRCh38
NC_000001.10:g.213597841T>C , CM000663.1:g.213597841T>C
GRCh37
NC_000001.9:g.211664464T>C
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_001738463.1:n.260+24189T>C
Search 100 bp 5'
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