Canonical Allele Identifier: CA337593685
Gene: RFTN1P1 HGNC NCBI
MyVariant.info:
GRCh38 chrY:g.7715439G>T
GRCh37 chrY:g.7583480G>T
gnomAD v3:
Y:7715439 G / T
gnomAD v4:
chrY-7715439-G-T
Joint Max Group AF 0.02160354 (SAS)
Genomes Max Group AF 0.02160354 (SAS)
dbSNP:
3903
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Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.7715439G>T , CM000686.2:g.7715439G>T GRCh38
NC_000024.9:g.7583480G>T , CM000686.1:g.7583480G>T GRCh37
NC_000024.8:g.7643480G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000651261.1:n.299-2342C>A
ENST00000455527.5:n.884-2342C>A
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