ClinGen Allele Registry
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Canonical Allele Identifier:
CA81296277
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr3:g.109743553G>A
GRCh37
chr3:g.109462400G>A
Linked Data - Sequence & Population
gnomAD v2:
3:109462400 G / A
gnomAD v3:
3:109743553 G / A
gnomAD v4:
chr3-109743553-G-A
Joint Max Group AF
0.42464707 (MID)
Genomes Max Group AF
0.42116082 (NFE)
Linked Data - NCBI & NCI
dbSNP:
1164064
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.109743553G>A , CM000665.2:g.109743553G>A
GRCh38
NC_000003.11:g.109462400G>A , CM000665.1:g.109462400G>A
GRCh37
NC_000003.10:g.110945090G>A
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_924325.1:n.142+63358G>A
Search 100 bp 5'
Search 100 bp 3'