Canonical Allele Identifier: CA337594933
Gene: RFTN1P1 HGNC NCBI

Linked Data

dbSNP Id: rs763692131
gnomAD v3: Y-7779217-T-C
gnomAD v4: Y-7779217-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.7779217T>C , CM000686.2:g.7779217T>C GRCh38
NC_000024.9:g.7647258T>C , CM000686.1:g.7647258T>C GRCh37
NC_000024.8:g.7707258T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000651261.1:n.115-2513A>G
ENST00000652723.1:n.1027-2513A>G
ENST00000442584.2:n.219-2189A>G