Canonical Allele Identifier: CA337593763
Gene: RFTN1P1 HGNC NCBI
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.7718803A>T , CM000686.2:g.7718803A>T GRCh38
NC_000024.9:g.7586844A>T , CM000686.1:g.7586844A>T GRCh37
NC_000024.8:g.7646844A>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000651261.1:n.299-5706T>A
ENST00000455527.5:n.883+3053T>A