Canonical Allele Identifier: CA337593087
Gene: RFTN1P1 HGNC NCBI
TTTY16 HGNC NCBI
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.7700527C>A , CM000686.2:g.7700527C>A GRCh38
NC_000024.9:g.7568568C>A , CM000686.1:g.7568568C>A GRCh37
NC_000024.8:g.7628568C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000651261.1:n.753+660G>T (RFTN1P1)
NR_001552.1:n.61+660G>T (TTTY16)