Canonical Allele Identifier: CA337593771

Gene: RFTN1P1

Linked Data

• dbSNP Id: rs552382113
• gnomAD v3: Y-7718879-G-A
• gnomAD v4: Y-7718879-G-A
• MyVariant Identifiers: chrY:g.7586920G>A (hg19) ; chrY:g.7718879G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.7718879G>A , CM000686.2:g.7718879G>A	GRCh38
NC_000024.9:g.7586920G>A , CM000686.1:g.7586920G>A	GRCh37
NC_000024.8:g.7646920G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000651261.1:n.299-5782C>T
ENST00000455527.5:n.883+2977C>T