Canonical Allele Identifier: CA1139013287
Gene: RFTN1P1 HGNC NCBI

Linked Data

gnomAD v3: Y-7718754-C-T
gnomAD v4: Y-7718754-C-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.7718754C>T , CM000686.2:g.7718754C>T GRCh38
NC_000024.9:g.7586795C>T , CM000686.1:g.7586795C>T GRCh37
NC_000024.8:g.7646795C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000651261.1:n.299-5657G>A
ENST00000455527.5:n.883+3102G>A
Search 100 bp 5'
Search 100 bp 3'