Canonical Allele Identifier: CA1138926925

Gene: RFTN1P1

Linked Data

• gnomAD v3: Y-7779247-A-G
• gnomAD v4: Y-7779247-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.7779247A>G , CM000686.2:g.7779247A>G	GRCh38
NC_000024.9:g.7647288A>G , CM000686.1:g.7647288A>G	GRCh37
NC_000024.8:g.7707288A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000651261.1:n.115-2543T>C
ENST00000652723.1:n.1027-2543T>C
ENST00000442584.2:n.219-2219T>C