Canonical Allele Identifier: CA1139017773
Gene: RFTN1P1 HGNC NCBI

Linked Data

gnomAD v3: Y-7736202-A-G
gnomAD v4: Y-7736202-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.7736202A>G , CM000686.2:g.7736202A>G GRCh38
NC_000024.9:g.7604243A>G , CM000686.1:g.7604243A>G GRCh37
NC_000024.8:g.7664243A>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000651261.1:n.299-23105T>C
ENST00000455527.5:n.297-6362T>C