Canonical Allele Identifier: CA337593155
Gene: RFTN1P1 HGNC NCBI
MyVariant.info:
GRCh38 chrY:g.7702781C>G
GRCh37 chrY:g.7570822C>G
gnomAD v3:
Y:7702781 C / G
gnomAD v4:
chrY-7702781-C-G
Joint Max Group AF 0.94950898 (EAS)
Genomes Max Group AF 0.94950898 (EAS)
dbSNP:
1005041
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Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.7702781C>G , CM000686.2:g.7702781C>G GRCh38
NC_000024.9:g.7570822C>G , CM000686.1:g.7570822C>G GRCh37
NC_000024.8:g.7630822C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000651261.1:n.677-1518G>C
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