Canonical Allele Identifier: CA1139013289
Gene: RFTN1P1 HGNC NCBI

Linked Data

gnomAD v3: Y-7718776-C-G
gnomAD v4: Y-7718776-C-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.7718776C>G , CM000686.2:g.7718776C>G GRCh38
NC_000024.9:g.7586817C>G , CM000686.1:g.7586817C>G GRCh37
NC_000024.8:g.7646817C>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000651261.1:n.299-5679G>C
ENST00000455527.5:n.883+3080G>C
Search 100 bp 5'
Search 100 bp 3'