Canonical Allele Identifier: CA1138926975
Gene: RFTN1P1 HGNC NCBI

Linked Data

dbSNP Id: rs1603085516
gnomAD v3: Y-7779345-G-T
gnomAD v4: Y-7779345-G-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.7779345G>T , CM000686.2:g.7779345G>T GRCh38
NC_000024.9:g.7647386G>T , CM000686.1:g.7647386G>T GRCh37
NC_000024.8:g.7707386G>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000651261.1:n.115-2641C>A
ENST00000652723.1:n.1027-2641C>A
ENST00000442584.2:n.219-2317C>A
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