ClinGen Allele Registry
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Canonical Allele Identifier:
CA182463918
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr8:g.97269961G>A
GRCh37
chr8:g.98282189G>A
Linked Data - Sequence & Population
gnomAD v2:
8:98282189 G / A
gnomAD v3:
8:97269961 G / A
gnomAD v4:
chr8-97269961-G-A
Joint Max Group AF
0.43089439 (AFR)
Genomes Max Group AF
0.43089439 (AFR)
Linked Data - NCBI & NCI
dbSNP:
1864729
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.97269961G>A , CM000670.2:g.97269961G>A
GRCh38
NC_000008.10:g.98282189G>A , CM000670.1:g.98282189G>A
GRCh37
NC_000008.9:g.98351365G>A
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
NR_125390.1:n.471+149109C>T
Search 100 bp 5'
Search 100 bp 3'