Canonical Allele Identifier: CA337594434
Gene: RFTN1P1 HGNC NCBI
MyVariant.info:
GRCh38 chrY:g.7760443C>T
GRCh37 chrY:g.7628484C>T
gnomAD v3:
Y:7760443 C / T
gnomAD v4:
chrY-7760443-C-T
Joint Max Group AF 0.03970187 (NFE)
Genomes Max Group AF 0.03970187 (NFE)
dbSNP:
7892900
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Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.7760443C>T , CM000686.2:g.7760443C>T GRCh38
NC_000024.9:g.7628484C>T , CM000686.1:g.7628484C>T GRCh37
NC_000024.8:g.7688484C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000651261.1:n.298+16078G>A
ENST00000652723.1:n.1210+16078G>A
ENST00000442584.2:n.600+16078G>A
ENST00000455527.5:n.188-10972G>A
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