ClinGen Allele Registry
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Canonical Allele Identifier:
CA90637725
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr3:g.193865921G>A
GRCh37
chr3:g.193583710G>A
Linked Data - Sequence & Population
gnomAD v2:
3:193583710 G / A
gnomAD v3:
3:193865921 G / A
gnomAD v4:
chr3-193865921-G-A
Joint Max Group AF
0.25439428 (SAS)
Genomes Max Group AF
0.25439428 (SAS)
Linked Data - NCBI & NCI
dbSNP:
604222
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.193865921G>A , CM000665.2:g.193865921G>A
GRCh38
NC_000003.11:g.193583710G>A , CM000665.1:g.193583710G>A
GRCh37
NC_000003.10:g.195066404G>A
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_001741075.1:n.2311-13304C>T
Search 100 bp 5'
Search 100 bp 3'