ClinGen Allele Registry
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Canonical Allele Identifier:
CA337593148
Gene: RFTN1P1
HGNC
NCBI
Linked Data
dbSNP Id:
rs769491025
gnomAD v3:
Y-7702715-T-C
gnomAD v4:
Y-7702715-T-C
MyVariant Identifiers:
chrY:g.7570756T>C (hg19)
chrY:g.7702715T>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000024.10:g.7702715T>C , CM000686.2:g.7702715T>C
GRCh38
NC_000024.9:g.7570756T>C , CM000686.1:g.7570756T>C
GRCh37
NC_000024.8:g.7630756T>C
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000651261.1:n.677-1452A>G
Search 100 bp 5'
Search 100 bp 3'