Canonical Allele Identifier: CA337595146
Gene: RFTN1P1 HGNC NCBI
MyVariant.info:
GRCh38 chrY:g.7790671T>C
GRCh37 chrY:g.7658712T>C
gnomAD v3:
Y:7790671 T / C
gnomAD v4:
chrY-7790671-T-C
Joint Max Group AF 0.00188494 (AFR)
Genomes Max Group AF 0.00188494 (AFR)
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Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.7790671T>C , CM000686.2:g.7790671T>C GRCh38
NC_000024.9:g.7658712T>C , CM000686.1:g.7658712T>C GRCh37
NC_000024.8:g.7718712T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000651261.1:n.115-13967A>G
ENST00000652723.1:n.1027-13967A>G
ENST00000442584.2:n.219-13643A>G
XR_001756056.1:n.822-11157A>G
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