ClinGen Allele Registry
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Canonical Allele Identifier:
CA12426592
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr6:g.31440488C>A
GRCh37
chr6:g.31408265C>A
Linked Data - Sequence & Population
gnomAD v2:
6:31408265 C / A
gnomAD v3:
6:31440488 C / A
gnomAD v4:
chr6-31440488-C-A
Joint Max Group AF
0.08852655 (AMR)
Genomes Max Group AF
0.08852655 (AMR)
Linked Data - NCBI & NCI
dbSNP:
2524276
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.31440488C>A , CM000668.2:g.31440488C>A
GRCh38
NC_000006.11:g.31408265C>A , CM000668.1:g.31408265C>A
GRCh37
NC_000006.10:g.31516244C>A
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_926694.1:n.54+372G>T
Search 100 bp 5'
Search 100 bp 3'