Canonical Allele Identifier: CA337594443
Gene: RFTN1P1 HGNC NCBI
MyVariant.info:
GRCh38 chrY:g.7760859A>G
GRCh37 chrY:g.7628900A>G
gnomAD v3:
Y:7760859 A / G
gnomAD v4:
chrY-7760859-A-G
Joint Max Group AF 0.93980234 (EAS)
Genomes Max Group AF 0.93980234 (EAS)
dbSNP:
7892927
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Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.7760859A>G , CM000686.2:g.7760859A>G GRCh38
NC_000024.9:g.7628900A>G , CM000686.1:g.7628900A>G GRCh37
NC_000024.8:g.7688900A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000651261.1:n.298+15662T>C
ENST00000652723.1:n.1210+15662T>C
ENST00000442584.2:n.600+15662T>C
ENST00000455527.5:n.188-11388T>C
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