Canonical Allele Identifier: CA337594885
Gene: RFTN1P1 HGNC NCBI

Linked Data

dbSNP Id: rs192529153
gnomAD v3: Y-7777436-C-T
gnomAD v4: Y-7777436-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.7777436C>T , CM000686.2:g.7777436C>T GRCh38
NC_000024.9:g.7645477C>T , CM000686.1:g.7645477C>T GRCh37
NC_000024.8:g.7705477C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000651261.1:n.115-732G>A
ENST00000652723.1:n.1027-732G>A
ENST00000442584.2:n.219-408G>A