Canonical Allele Identifier: CA635277557
Gene: BPIFB1 HGNC NCBI

Linked Data

dbSNP Id: rs1304431022
gnomAD v2: 20-31863008-A-T
gnomAD v3: 20-33275202-A-T
gnomAD v4: 20-33275202-A-T
MyVariant Identifiers: chr20:g.31863008A>T (hg19) chr20:g.33275202A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.33275202A>T , CM000682.2:g.33275202A>T GRCh38
NC_000020.10:g.31863008A>T , CM000682.1:g.31863008A>T GRCh37
NC_000020.9:g.31326669A>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000423645.5:c.-42+1548A>T ENSP00000390471.1:n.-42+1548A>T
XM_024452018.1:c.-295+1548A>T XP_024307786.1:n.-295+1548A>T
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