Canonical Allele Identifier: CA337594029
Gene: RFTN1P1 HGNC NCBI

Linked Data

dbSNP Id: rs184894500
gnomAD v3: Y-7738592-G-A
gnomAD v4: Y-7738592-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.7738592G>A , CM000686.2:g.7738592G>A GRCh38
NC_000024.9:g.7606633G>A , CM000686.1:g.7606633G>A GRCh37
NC_000024.8:g.7666633G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000651261.1:n.299-25495C>T
ENST00000455527.5:n.297-8752C>T