Canonical Allele Identifier: CA337594852
Gene: RFTN1P1 HGNC NCBI
MyVariant.info:
GRCh38 chrY:g.7776434C>T
GRCh37 chrY:g.7644475C>T
gnomAD v3:
Y:7776434 C / T
gnomAD v4:
chrY-7776434-C-T
Joint Max Group AF 0.00211744 (AFR)
Genomes Max Group AF 0.00211786 (AFR)
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Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.7776434C>T , CM000686.2:g.7776434C>T GRCh38
NC_000024.9:g.7644475C>T , CM000686.1:g.7644475C>T GRCh37
NC_000024.8:g.7704475C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000651261.1:n.298+87G>A
ENST00000652723.1:n.1210+87G>A
ENST00000442584.2:n.600+87G>A
ENST00000455527.5:n.187+87G>A
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