Canonical Allele Identifier: CA337593773
Gene: RFTN1P1 HGNC NCBI

Linked Data

dbSNP Id: rs918544208
gnomAD v3: Y-7718886-G-C
gnomAD v4: Y-7718886-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.7718886G>C , CM000686.2:g.7718886G>C GRCh38
NC_000024.9:g.7586927G>C , CM000686.1:g.7586927G>C GRCh37
NC_000024.8:g.7646927G>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000651261.1:n.299-5789C>G
ENST00000455527.5:n.883+2970C>G