Canonical Allele Identifier: CA1138925269
Gene: RFTN1P1 HGNC NCBI

Linked Data

dbSNP Id: rs2014252382
gnomAD v3: Y-7777402-C-A
gnomAD v4: Y-7777402-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.7777402C>A , CM000686.2:g.7777402C>A GRCh38
NC_000024.9:g.7645443C>A , CM000686.1:g.7645443C>A GRCh37
NC_000024.8:g.7705443C>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000651261.1:n.115-698G>T
ENST00000652723.1:n.1027-698G>T
ENST00000442584.2:n.219-374G>T
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