Canonical Allele Identifier: CA337595162
Gene: RFTN1P1 HGNC NCBI
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.7791674A>T , CM000686.2:g.7791674A>T GRCh38
NC_000024.9:g.7659715A>T , CM000686.1:g.7659715A>T GRCh37
NC_000024.8:g.7719715A>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000651261.1:n.115-14970T>A
ENST00000652723.1:n.1026+13821T>A
ENST00000442584.2:n.218+13821T>A
XR_001756056.1:n.822-12160T>A