Canonical Allele Identifier: CA1139008212
Gene: RFTN1P1 HGNC NCBI

Linked Data

gnomAD v3: Y-7702649-G-T
gnomAD v4: Y-7702649-G-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.7702649G>T , CM000686.2:g.7702649G>T GRCh38
NC_000024.9:g.7570690G>T , CM000686.1:g.7570690G>T GRCh37
NC_000024.8:g.7630690G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000651261.1:n.677-1386C>A
Search 100 bp 5'
Search 100 bp 3'