Canonical Allele Identifier: CA1139013304
Gene: RFTN1P1 HGNC NCBI

Linked Data

dbSNP Id: rs2014172719
gnomAD v3: Y-7718856-T-C
gnomAD v4: Y-7718856-T-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.7718856T>C , CM000686.2:g.7718856T>C GRCh38
NC_000024.9:g.7586897T>C , CM000686.1:g.7586897T>C GRCh37
NC_000024.8:g.7646897T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000651261.1:n.299-5759A>G
ENST00000455527.5:n.883+3000A>G
Search 100 bp 5'
Search 100 bp 3'