Canonical Allele Identifier: CA337594030
Gene: RFTN1P1 HGNC NCBI

Linked Data

dbSNP Id: rs906666826
gnomAD v3: Y-7738742-G-A
gnomAD v4: Y-7738742-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.7738742G>A , CM000686.2:g.7738742G>A GRCh38
NC_000024.9:g.7606783G>A , CM000686.1:g.7606783G>A GRCh37
NC_000024.8:g.7666783G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000651261.1:n.299-25645C>T
ENST00000455527.5:n.297-8902C>T