Canonical Allele Identifier: CA1139015280
Gene: RFTN1P1 HGNC NCBI

Linked Data

dbSNP Id: rs2014181284
gnomAD v3: Y-7725847-G-A
gnomAD v4: Y-7725847-G-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.7725847G>A , CM000686.2:g.7725847G>A GRCh38
NC_000024.9:g.7593888G>A , CM000686.1:g.7593888G>A GRCh37
NC_000024.8:g.7653888G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000651261.1:n.299-12750C>T
ENST00000455527.5:n.680+3610C>T
Search 100 bp 5'
Search 100 bp 3'