Canonical Allele Identifier: CA337593896
Gene: RFTN1P1 HGNC NCBI
MyVariant.info:
GRCh38 chrY:g.7724416A>G
GRCh37 chrY:g.7592457A>G
gnomAD v3:
Y:7724416 A / G
gnomAD v4:
chrY-7724416-A-G
Joint Max Group AF 0.00188823 (AFR)
Genomes Max Group AF 0.00188823 (AFR)
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Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.7724416A>G , CM000686.2:g.7724416A>G GRCh38
NC_000024.9:g.7592457A>G , CM000686.1:g.7592457A>G GRCh37
NC_000024.8:g.7652457A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000651261.1:n.299-11319T>C
ENST00000455527.5:n.681-2358T>C
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