ClinGen Allele Registry
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Canonical Allele Identifier:
CA16273983
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr6:g.98136857C>A
GRCh37
chr6:g.98584733C>A
Linked Data - Sequence & Population
gnomAD v2:
6:98584733 C / A
gnomAD v3:
6:98136857 C / A
gnomAD v4:
chr6-98136857-C-A
Joint Max Group AF
0.4754675 (NFE)
Genomes Max Group AF
0.4754675 (NFE)
Linked Data - NCBI & NCI
dbSNP:
9320913
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.98136857C>A , CM000668.2:g.98136857C>A
GRCh38
NC_000006.11:g.98584733C>A , CM000668.1:g.98584733C>A
GRCh37
NC_000006.10:g.98691454C>A
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_942809.1:n.456+37587C>A
Search 100 bp 5'
Search 100 bp 3'