Canonical Allele Identifier: CA2469952710
Gene: RFTN1P1 HGNC NCBI

Linked Data

dbSNP Id: rs1603083457
gnomAD v3: Y-7738486-G-A
gnomAD v4: Y-7738486-G-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.7738486G>A , CM000686.2:g.7738486G>A GRCh38
NC_000024.9:g.7606527G>A , CM000686.1:g.7606527G>A GRCh37
NC_000024.8:g.7666527G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000651261.1:n.299-25389C>T
ENST00000455527.5:n.297-8646C>T
Search 100 bp 5'
Search 100 bp 3'