Canonical Allele Identifier: CA1139017754

Gene: RFTN1P1

Linked Data

• gnomAD v3: Y-7736171-A-G
• gnomAD v4: Y-7736171-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.7736171A>G , CM000686.2:g.7736171A>G	GRCh38
NC_000024.9:g.7604212A>G , CM000686.1:g.7604212A>G	GRCh37
NC_000024.8:g.7664212A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651261.1:n.299-23074T>C
ENST00000455527.5:n.297-6331T>C