Canonical Allele Identifier: CA1138925256
Gene: RFTN1P1 HGNC NCBI

Linked Data

dbSNP Id: rs2014252315
gnomAD v3: Y-7777390-T-C
gnomAD v4: Y-7777390-T-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.7777390T>C , CM000686.2:g.7777390T>C GRCh38
NC_000024.9:g.7645431T>C , CM000686.1:g.7645431T>C GRCh37
NC_000024.8:g.7705431T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000651261.1:n.115-686A>G
ENST00000652723.1:n.1027-686A>G
ENST00000442584.2:n.219-362A>G
Search 100 bp 5'
Search 100 bp 3'