ClinGen Allele Registry
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Canonical Allele Identifier:
CA337742163
Gene: PNPLA4P1
HGNC
NCBI
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chrY:g.14081208A>G
GRCh37
chrY:g.16193088A>G
Linked Data - Sequence & Population
gnomAD v3:
Y:14081208 A / G
gnomAD v4:
chrY-14081208-A-G
Joint Max Group AF
0.00304695 (AFR)
Genomes Max Group AF
0.00305198 (AFR)
Linked Data - NCBI & NCI
dbSNP:
186564287
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000024.10:g.14081208A>G , CM000686.2:g.14081208A>G
GRCh38
NC_000024.9:g.16193088A>G , CM000686.1:g.16193088A>G
GRCh37
NC_000024.8:g.14702482A>G
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000458328.1:n.95+39A>G
Search 100 bp 5'
Search 100 bp 3'