Canonical Allele Identifier: CA337593896
Gene: RFTN1P1 HGNC NCBI

Linked Data

dbSNP Id: rs185081318
gnomAD v3: Y-7724416-A-G
gnomAD v4: Y-7724416-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.7724416A>G , CM000686.2:g.7724416A>G GRCh38
NC_000024.9:g.7592457A>G , CM000686.1:g.7592457A>G GRCh37
NC_000024.8:g.7652457A>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000651261.1:n.299-11319T>C
ENST00000455527.5:n.681-2358T>C