Canonical Allele Identifier: CA880383613
Gene: RFTN1P1 HGNC NCBI

Linked Data

dbSNP Id: rs1195190270
gnomAD v3: Y-7779294-G-T
gnomAD v4: Y-7779294-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.7779294G>T , CM000686.2:g.7779294G>T GRCh38
NC_000024.9:g.7647335G>T , CM000686.1:g.7647335G>T GRCh37
NC_000024.8:g.7707335G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000651261.1:n.115-2590C>A
ENST00000652723.1:n.1027-2590C>A
ENST00000442584.2:n.219-2266C>A