Canonical Allele Identifier: CA9812875

Gene: BPIFB6

Linked Data

• ClinVar Variation Id: 2326764
• ClinVar RCV Id: RCV004169685
• dbSNP Id: rs189197855
• ExAC: 20:31622634 G / A
• gnomAD v2: 20-31622634-G-A
• gnomAD v3: 20-33034828-G-A
• gnomAD v4: 20-33034828-G-A
• MyVariant Identifiers: chr20:g.31622634G>A (hg19) ; chr20:g.33034828G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.33034828G>A , CM000682.2:g.33034828G>A	GRCh38
NC_000020.10:g.31622634G>A , CM000682.1:g.31622634G>A	GRCh37
NC_000020.9:g.31086295G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349552.1:c.368G>A MANE Select	ENSP00000344929.1:p.Arg123Gln
ENST00000542375.5:c.682G>A	ENSP00000443533.1:n.682G>A
NM_174897.2:c.368G>A MANE Select	NP_777557.1:p.Arg123Gln
XM_011528541.1:c.368G>A	XP_011526843.1:p.Arg123Gln
XM_017027663.1:c.416G>A	XP_016883152.1:p.Arg139Gln