Canonical Allele Identifier: CA1138925239
Gene: RFTN1P1 HGNC NCBI

Linked Data

dbSNP Id: rs1603085342
gnomAD v3: Y-7777378-T-G
gnomAD v4: Y-7777378-T-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.7777378T>G , CM000686.2:g.7777378T>G GRCh38
NC_000024.9:g.7645419T>G , CM000686.1:g.7645419T>G GRCh37
NC_000024.8:g.7705419T>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000651261.1:n.115-674A>C
ENST00000652723.1:n.1027-674A>C
ENST00000442584.2:n.219-350A>C
Search 100 bp 5'
Search 100 bp 3'