ClinGen Allele Registry
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Canonical Allele Identifier:
CA13979158
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr14:g.65291924G>A
GRCh37
chr14:g.65758642G>A
Linked Data - Sequence & Population
gnomAD v2:
14:65758642 G / A
gnomAD v3:
14:65291924 G / A
gnomAD v4:
chr14-65291924-G-A
Joint Max Group AF
0.74060779 (EAS)
Genomes Max Group AF
0.74060779 (EAS)
Linked Data - NCBI & NCI
dbSNP:
7159888
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000014.9:g.65291924G>A , CM000676.2:g.65291924G>A
GRCh38
NC_000014.8:g.65758642G>A , CM000676.1:g.65758642G>A
GRCh37
NC_000014.7:g.64828395G>A
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_943945.1:n.271+26567C>T
Search 100 bp 5'
Search 100 bp 3'