Canonical Allele Identifier: CA337593954
Gene: RFTN1P1 HGNC NCBI
dbSNP:
191044406
gnomAD v3:
Y:7730986 A / T
gnomAD v4:
chrY-7730986-A-T
Joint Max Group AF 0.0087327 (AFR)
Genomes Max Group AF 0.0087327 (AFR)
MyVariant.info:
GRCh38 chrY:g.7730986A>T
GRCh37 chrY:g.7599027A>T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.7730986A>T , CM000686.2:g.7730986A>T GRCh38
NC_000024.9:g.7599027A>T , CM000686.1:g.7599027A>T GRCh37
NC_000024.8:g.7659027A>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000651261.1:n.299-17889T>A
ENST00000455527.5:n.297-1146T>A
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