Canonical Allele Identifier: CA337593932
Gene: RFTN1P1 HGNC NCBI

Linked Data

dbSNP Id: rs181848931
gnomAD v3: Y-7728274-C-T
gnomAD v4: Y-7728274-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.7728274C>T , CM000686.2:g.7728274C>T GRCh38
NC_000024.9:g.7596315C>T , CM000686.1:g.7596315C>T GRCh37
NC_000024.8:g.7656315C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000651261.1:n.299-15177G>A
ENST00000455527.5:n.680+1183G>A