Canonical Allele Identifier: CA2589277718

Gene: RFTN1P1

Linked Data

• gnomAD v3: Y-7702714-G-A
• gnomAD v4: Y-7702714-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.7702714G>A , CM000686.2:g.7702714G>A	GRCh38
NC_000024.9:g.7570755G>A , CM000686.1:g.7570755G>A	GRCh37
NC_000024.8:g.7630755G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000651261.1:n.677-1451C>T