ClinGen Allele Registry
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Canonical Allele Identifier:
CA803700515
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr5:g.1296385G>A
GRCh37
chr5:g.1296500G>A
Linked Data - Sequence & Population
gnomAD v3:
5:1296385 G / A
gnomAD v4:
chr5-1296385-G-A
Joint Max Group AF
0.00000797 (AFR)
Genomes Max Group AF
0.00000797 (AFR)
Linked Data - NCBI & NCI
dbSNP:
1253406001
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.1296385G>A , CM000667.2:g.1296385G>A
GRCh38
NC_000005.9:g.1296500G>A , CM000667.1:g.1296500G>A
GRCh37
NC_000005.8:g.1349500G>A
NCBI36
NG_009265.1:g.3663C>T , LRG_343:g.3663C>T
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