Canonical Allele Identifier: CA1139230206
Gene: SFPQP1 HGNC NCBI

Linked Data

dbSNP Id: rs1603212115
gnomAD v3: Y-13090714-C-T
gnomAD v4: Y-13090714-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.13090714C>T , CM000686.2:g.13090714C>T GRCh38
NC_000024.9:g.15202628C>T , CM000686.1:g.15202628C>T GRCh37
NC_000024.8:g.13712022C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000446621.1:n.556-3861C>T