Canonical Allele Identifier: CA16005655
Gene: BPIFC HGNC NCBI
MyVariant.info:
GRCh38 chr22:g.32413845T>C
GRCh37 chr22:g.32809832T>C
gnomAD v2:
22:32809832 T / C
gnomAD v3:
22:32413845 T / C
gnomAD v4:
chr22-32413845-T-C
Joint Max Group AF 0.4088174 (MID)
Genomes Max Group AF 0.35442748 (SAS)
Exomes Max Group AF 0.36123119 (NFE)
dbSNP:
9609538
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.32413845T>C , CM000684.2:g.32413845T>C GRCh38
NC_000022.10:g.32809832T>C , CM000684.1:g.32809832T>C GRCh37
NC_000022.9:g.31139832T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000300399.9:c.*458A>G MANE Select ENSP00000300399.3:n.*458A>G
XM_011530088.1:c.*458A>G XP_011528390.1:n.*458A>G
XM_011530089.1:c.*458A>G XP_011528391.1:n.*458A>G
XM_011530090.1:c.*458A>G XP_011528392.1:n.*458A>G
XM_011530091.1:c.*458A>G XP_011528393.1:n.*458A>G
XM_011530092.1:c.*458A>G XP_011528394.1:n.*458A>G
XM_011530093.1:c.*458A>G XP_011528395.1:n.*458A>G
XM_011530088.2:c.*458A>G XP_011528390.1:n.*458A>G
XM_011530089.2:c.*458A>G XP_011528391.1:n.*458A>G
XM_011530090.2:c.*458A>G XP_011528392.1:n.*458A>G
XM_011530091.2:c.*458A>G XP_011528393.1:n.*458A>G
XM_017028740.1:c.*458A>G XP_016884229.1:n.*458A>G
NM_174932.3:c.*458A>G MANE Select NP_777592.1:n.*458A>G
Search 100 bp 5'
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