Canonical Allele Identifier: CA2589298221
Gene: SFPQP1 HGNC NCBI

Linked Data

dbSNP Id: rs2148307213
gnomAD v3: Y-13090498-C-T
gnomAD v4: Y-13090498-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.13090498C>T , CM000686.2:g.13090498C>T GRCh38
NC_000024.9:g.15202412C>T , CM000686.1:g.15202412C>T GRCh37
NC_000024.8:g.13711806C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000446621.1:n.556-4077C>T