Canonical Allele Identifier: CA337594936
Gene: RFTN1P1 HGNC NCBI
dbSNP:
7067478
gnomAD v3:
Y:7779316 A / G
gnomAD v4:
chrY-7779316-A-G
Joint Max Group AF 0.948268 (EAS)
Genomes Max Group AF 0.948268 (EAS)
MyVariant.info:
GRCh38 chrY:g.7779316A>G
GRCh37 chrY:g.7647357A>G
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Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.7779316A>G , CM000686.2:g.7779316A>G GRCh38
NC_000024.9:g.7647357A>G , CM000686.1:g.7647357A>G GRCh37
NC_000024.8:g.7707357A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000651261.1:n.115-2612T>C
ENST00000652723.1:n.1027-2612T>C
ENST00000442584.2:n.219-2288T>C
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