Canonical Allele Identifier: CA337593912
Gene: RFTN1P1 HGNC NCBI

Linked Data

dbSNP Id: rs190238924
gnomAD v3: Y-7725880-C-T
gnomAD v4: Y-7725880-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.7725880C>T , CM000686.2:g.7725880C>T GRCh38
NC_000024.9:g.7593921C>T , CM000686.1:g.7593921C>T GRCh37
NC_000024.8:g.7653921C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000651261.1:n.299-12783G>A
ENST00000455527.5:n.680+3577G>A