Canonical Allele Identifier: CA1139015282
Gene: RFTN1P1 HGNC NCBI

Linked Data

dbSNP Id: rs2014181321
gnomAD v3: Y-7725855-C-T
gnomAD v4: Y-7725855-C-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.7725855C>T , CM000686.2:g.7725855C>T GRCh38
NC_000024.9:g.7593896C>T , CM000686.1:g.7593896C>T GRCh37
NC_000024.8:g.7653896C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000651261.1:n.299-12758G>A
ENST00000455527.5:n.680+3602G>A
Search 100 bp 5'
Search 100 bp 3'