Canonical Allele Identifier: CA337595033
Gene: RFTN1P1 HGNC NCBI

Linked Data

dbSNP Id: rs17316639
gnomAD v3: Y-7784803-T-G
gnomAD v4: Y-7784803-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.7784803T>G , CM000686.2:g.7784803T>G GRCh38
NC_000024.9:g.7652844T>G , CM000686.1:g.7652844T>G GRCh37
NC_000024.8:g.7712844T>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000651261.1:n.115-8099A>C
ENST00000652723.1:n.1027-8099A>C
ENST00000442584.2:n.219-7775A>C
XR_001756056.1:n.822-5289A>C