Canonical Allele Identifier: CA337595052
Gene: RFTN1P1 HGNC NCBI
MyVariant.info:
GRCh38 chrY:g.7786312G>A
GRCh37 chrY:g.7654353G>A
gnomAD v3:
Y:7786312 G / A
gnomAD v4:
chrY-7786312-G-A
Joint Max Group AF 0.00226112 (AFR)
Genomes Max Group AF 0.00226112 (AFR)
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Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.7786312G>A , CM000686.2:g.7786312G>A GRCh38
NC_000024.9:g.7654353G>A , CM000686.1:g.7654353G>A GRCh37
NC_000024.8:g.7714353G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000651261.1:n.115-9608C>T
ENST00000652723.1:n.1027-9608C>T
ENST00000442584.2:n.219-9284C>T
XR_001756056.1:n.822-6798C>T
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