Canonical Allele Identifier: CA337593685
Gene: RFTN1P1 HGNC NCBI

Linked Data

dbSNP Id: rs3903
gnomAD v3: Y-7715439-G-T
gnomAD v4: Y-7715439-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.7715439G>T , CM000686.2:g.7715439G>T GRCh38
NC_000024.9:g.7583480G>T , CM000686.1:g.7583480G>T GRCh37
NC_000024.8:g.7643480G>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000651261.1:n.299-2342C>A
ENST00000455527.5:n.884-2342C>A