Canonical Allele Identifier: CA337594029
Gene: RFTN1P1 HGNC NCBI
MyVariant.info:
GRCh38 chrY:g.7738592G>A
GRCh37 chrY:g.7606633G>A
gnomAD v3:
Y:7738592 G / A
gnomAD v4:
chrY-7738592-G-A
Joint Max Group AF 0.00223855 (AFR)
Genomes Max Group AF 0.00223855 (AFR)
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Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.7738592G>A , CM000686.2:g.7738592G>A GRCh38
NC_000024.9:g.7606633G>A , CM000686.1:g.7606633G>A GRCh37
NC_000024.8:g.7666633G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000651261.1:n.299-25495C>T
ENST00000455527.5:n.297-8752C>T
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