Canonical Allele Identifier: CA1139008224

Gene: RFTN1P1

Linked Data

• gnomAD v3: Y-7702717-T-C
• gnomAD v4: Y-7702717-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.7702717T>C , CM000686.2:g.7702717T>C	GRCh38
NC_000024.9:g.7570758T>C , CM000686.1:g.7570758T>C	GRCh37
NC_000024.8:g.7630758T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000651261.1:n.677-1454A>G