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Canonical Allele Identifier:
CA168844865
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr7:g.142490201C>T
Linked Data - Sequence & Population
gnomAD v3:
7:142490201 C / T
gnomAD v4:
chr7-142490201-C-T
Joint Max Group AF
0.04871929 (AFR)
Genomes Max Group AF
0.04871929 (AFR)
Linked Data - NCBI & NCI
dbSNP:
11982969
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.142490201C>T , CM000669.2:g.142490201C>T
GRCh38
NC_000007.12:g.141858674C>T
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_001745389.1:n.76-21890G>A
XR_001745390.1:n.61+9983G>A
XR_002956589.1:n.76-21890G>A
Search 100 bp 5'
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