Canonical Allele Identifier: CA1017029768
Gene: BPIFB1 HGNC NCBI

Linked Data

dbSNP Id: rs1030392323
gnomAD v3: 20-33275234-C-A
gnomAD v4: 20-33275234-C-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.33275234C>A , CM000682.2:g.33275234C>A GRCh38
NC_000020.10:g.31863040C>A , CM000682.1:g.31863040C>A GRCh37
NC_000020.9:g.31326701C>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000423645.5:c.-42+1580C>A ENSP00000390471.1:n.-42+1580C>A
XM_024452018.1:c.-295+1580C>A XP_024307786.1:n.-295+1580C>A
Search 100 bp 5'
Search 100 bp 3'