Canonical Allele Identifier: CA1139013259
Gene: RFTN1P1 HGNC NCBI

Linked Data

gnomAD v3: Y-7718717-A-G
gnomAD v4: Y-7718717-A-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.7718717A>G , CM000686.2:g.7718717A>G GRCh38
NC_000024.9:g.7586758A>G , CM000686.1:g.7586758A>G GRCh37
NC_000024.8:g.7646758A>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000651261.1:n.299-5620T>C
ENST00000455527.5:n.883+3139T>C
Search 100 bp 5'
Search 100 bp 3'