Canonical Allele Identifier: CA337595006
Gene: RFTN1P1 HGNC NCBI

Linked Data

dbSNP Id: rs186764807
gnomAD v3: Y-7783515-T-G
gnomAD v4: Y-7783515-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.7783515T>G , CM000686.2:g.7783515T>G GRCh38
NC_000024.9:g.7651556T>G , CM000686.1:g.7651556T>G GRCh37
NC_000024.8:g.7711556T>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000651261.1:n.115-6811A>C
ENST00000652723.1:n.1027-6811A>C
ENST00000442584.2:n.219-6487A>C
XR_001756056.1:n.822-4001A>C