Canonical Allele Identifier: CA1138925262
Gene: RFTN1P1 HGNC NCBI

Linked Data

gnomAD v3: Y-7777393-C-T
gnomAD v4: Y-7777393-C-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.7777393C>T , CM000686.2:g.7777393C>T GRCh38
NC_000024.9:g.7645434C>T , CM000686.1:g.7645434C>T GRCh37
NC_000024.8:g.7705434C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000651261.1:n.115-689G>A
ENST00000652723.1:n.1027-689G>A
ENST00000442584.2:n.219-365G>A
Search 100 bp 5'
Search 100 bp 3'