Canonical Allele Identifier: CA337594025
Gene: RFTN1P1 HGNC NCBI

Linked Data

dbSNP Id: rs895408839
gnomAD v3: Y-7738484-A-C
gnomAD v4: Y-7738484-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.7738484A>C , CM000686.2:g.7738484A>C GRCh38
NC_000024.9:g.7606525A>C , CM000686.1:g.7606525A>C GRCh37
NC_000024.8:g.7666525A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000651261.1:n.299-25387T>G
ENST00000455527.5:n.297-8644T>G