Canonical Allele Identifier: CA337593838
Gene: RFTN1P1 HGNC NCBI

Linked Data

dbSNP Id: rs188292317
gnomAD v3: Y-7721262-T-G
gnomAD v4: Y-7721262-T-G
MyVariant Identifiers: chrY:g.7589303T>G (hg19) chrY:g.7721262T>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.7721262T>G , CM000686.2:g.7721262T>G GRCh38
NC_000024.9:g.7589303T>G , CM000686.1:g.7589303T>G GRCh37
NC_000024.8:g.7649303T>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000651261.1:n.299-8165A>C
ENST00000455527.5:n.883+594A>C
Search 100 bp 5'
Search 100 bp 3'