Canonical Allele Identifier: CA313244791
Gene: BPIFB1 HGNC NCBI

Linked Data

dbSNP Id: rs190405327
gnomAD v2: 20-31863027-C-G
gnomAD v3: 20-33275221-C-G
gnomAD v4: 20-33275221-C-G
MyVariant Identifiers: chr20:g.31863027C>G (hg19) chr20:g.33275221C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.33275221C>G , CM000682.2:g.33275221C>G GRCh38
NC_000020.10:g.31863027C>G , CM000682.1:g.31863027C>G GRCh37
NC_000020.9:g.31326688C>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000423645.5:c.-42+1567C>G ENSP00000390471.1:n.-42+1567C>G
XM_024452018.1:c.-295+1567C>G XP_024307786.1:n.-295+1567C>G
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