Canonical Allele Identifier: CA1139230189
Gene: SFPQP1 HGNC NCBI

Linked Data

dbSNP Id: rs2053742879
gnomAD v3: Y-13090616-G-T
gnomAD v4: Y-13090616-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.13090616G>T , CM000686.2:g.13090616G>T GRCh38
NC_000024.9:g.15202530G>T , CM000686.1:g.15202530G>T GRCh37
NC_000024.8:g.13711924G>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000446621.1:n.556-3959G>T