Canonical Allele Identifier: CA337593769
Gene: RFTN1P1 HGNC NCBI
dbSNP:
111517397
gnomAD v3:
Y:7718878 C / T
gnomAD v4:
chrY-7718878-C-T
Joint Max Group AF 0.01375697 (AFR)
Genomes Max Group AF 0.01375697 (AFR)
MyVariant.info:
GRCh38 chrY:g.7718878C>T
GRCh37 chrY:g.7586919C>T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.7718878C>T , CM000686.2:g.7718878C>T GRCh38
NC_000024.9:g.7586919C>T , CM000686.1:g.7586919C>T GRCh37
NC_000024.8:g.7646919C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000651261.1:n.299-5781G>A
ENST00000455527.5:n.883+2978G>A
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