Canonical Allele Identifier: CA1138926977
Gene: RFTN1P1 HGNC NCBI

Linked Data

gnomAD v3: Y-7779348-C-A
gnomAD v4: Y-7779348-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.7779348C>A , CM000686.2:g.7779348C>A GRCh38
NC_000024.9:g.7647389C>A , CM000686.1:g.7647389C>A GRCh37
NC_000024.8:g.7707389C>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000651261.1:n.115-2644G>T
ENST00000652723.1:n.1027-2644G>T
ENST00000442584.2:n.219-2320G>T