Canonical Allele Identifier: CA1139015278

Gene: RFTN1P1

Linked Data

• dbSNP Id: rs2014181258
• gnomAD v3: Y-7725841-A-C
• gnomAD v4: Y-7725841-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.7725841A>C , CM000686.2:g.7725841A>C	GRCh38
NC_000024.9:g.7593882A>C , CM000686.1:g.7593882A>C	GRCh37
NC_000024.8:g.7653882A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000651261.1:n.299-12744T>G
ENST00000455527.5:n.680+3616T>G