Canonical Allele Identifier: CA1139018358

Gene: RFTN1P1

Linked Data

• dbSNP Id: rs2014195638
• gnomAD v3: Y-7738621-T-C
• gnomAD v4: Y-7738621-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.7738621T>C , CM000686.2:g.7738621T>C	GRCh38
NC_000024.9:g.7606662T>C , CM000686.1:g.7606662T>C	GRCh37
NC_000024.8:g.7666662T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000651261.1:n.299-25524A>G
ENST00000455527.5:n.297-8781A>G