Canonical Allele Identifier: CA313244808

Gene: BPIFB1

Linked Data

• dbSNP Id: rs556682531
• gnomAD v3: 20-33275237-A-C
• gnomAD v4: 20-33275237-A-C
• MyVariant Identifiers: chr20:g.31863043A>C (hg19) ; chr20:g.33275237A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.33275237A>C , CM000682.2:g.33275237A>C	GRCh38
NC_000020.10:g.31863043A>C , CM000682.1:g.31863043A>C	GRCh37
NC_000020.9:g.31326704A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000423645.5:c.-42+1583A>C	ENSP00000390471.1:n.-42+1583A>C
XM_024452018.1:c.-295+1583A>C	XP_024307786.1:n.-295+1583A>C