Canonical Allele Identifier: CA1138925295
Gene: RFTN1P1 HGNC NCBI

Linked Data

dbSNP Id: rs2014252507
gnomAD v3: Y-7777424-G-A
gnomAD v4: Y-7777424-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.7777424G>A , CM000686.2:g.7777424G>A GRCh38
NC_000024.9:g.7645465G>A , CM000686.1:g.7645465G>A GRCh37
NC_000024.8:g.7705465G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000651261.1:n.115-720C>T
ENST00000652723.1:n.1027-720C>T
ENST00000442584.2:n.219-396C>T