Canonical Allele Identifier: CA337594365
Gene: RFTN1P1 HGNC NCBI
MyVariant.info:
GRCh38 chrY:g.7757075C>T
GRCh37 chrY:g.7625116C>T
gnomAD v3:
Y:7757075 C / T
gnomAD v4:
chrY-7757075-C-T
Joint Max Group AF 0.00038228 (AFR)
Genomes Max Group AF 0.00038228 (AFR)
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Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.7757075C>T , CM000686.2:g.7757075C>T GRCh38
NC_000024.9:g.7625116C>T , CM000686.1:g.7625116C>T GRCh37
NC_000024.8:g.7685116C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000651261.1:n.298+19446G>A
ENST00000652723.1:n.1211-14048G>A
ENST00000442584.2:n.601-14048G>A
ENST00000455527.5:n.188-7604G>A
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