Canonical Allele Identifier: CA1138925235
Gene: RFTN1P1 HGNC NCBI

Linked Data

dbSNP Id: rs2014252137
gnomAD v3: Y-7777369-G-C
gnomAD v4: Y-7777369-G-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.7777369G>C , CM000686.2:g.7777369G>C GRCh38
NC_000024.9:g.7645410G>C , CM000686.1:g.7645410G>C GRCh37
NC_000024.8:g.7705410G>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000651261.1:n.115-665C>G
ENST00000652723.1:n.1027-665C>G
ENST00000442584.2:n.219-341C>G
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