Canonical Allele Identifier: CA15364407
Gene: FYB1 HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.39106998A>G
GRCh37 chr5:g.39107100A>G
gnomAD v2:
5:39107100 A / G
gnomAD v3:
5:39106998 A / G
gnomAD v4:
chr5-39106998-A-G
Joint Max Group AF 0.38556225 (NFE)
Genomes Max Group AF 0.38562003 (NFE)
Exomes Max Group AF 0.28549864 (NFE)
dbSNP:
2161612
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.39106998A>G , CM000667.2:g.39106998A>G GRCh38
NC_000005.9:g.39107100A>G , CM000667.1:g.39107100A>G GRCh37
NC_000005.8:g.39142857A>G NCBI36
NG_029596.1:g.168660T>C
NG_029596.2:g.168660T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000351578.12:c.*445T>C ENSP00000316460.7:n.*445T>C
ENST00000512982.4:c.*445T>C MANE Select ENSP00000425845.3:n.*445T>C
ENST00000646045.2:c.*445T>C ENSP00000493623.1:n.*445T>C
ENST00000351578.10:c.*445T>C ENSP00000316460.7:n.*445T>C
NM_001243093.1:c.*445T>C NP_001230022.1:n.*445T>C
NM_001465.4:c.*445T>C NP_001456.3:n.*445T>C
NM_199335.3:c.*445T>C NP_955367.1:n.*445T>C
XM_006714464.2:c.*445T>C XP_006714527.1:n.*445T>C
XM_006714465.2:c.*445T>C XP_006714528.1:n.*445T>C
XM_006714466.2:c.*445T>C XP_006714529.1:n.*445T>C
XM_011514008.1:c.*445T>C XP_011512310.1:n.*445T>C
XM_011514009.1:c.*445T>C XP_011512311.1:n.*445T>C
XM_011514010.1:c.*445T>C XP_011512312.1:n.*445T>C
XM_011514011.1:c.*445T>C XP_011512313.1:n.*445T>C
NM_001349333.1:c.*445T>C NP_001336262.1:n.*445T>C
NM_001465.5:c.*445T>C NP_001456.3:n.*445T>C
NM_018594.2:c.*445T>C NP_061064.2:n.*445T>C
NM_199335.4:c.*445T>C NP_955367.1:n.*445T>C
XM_006714464.3:c.*445T>C XP_006714527.1:n.*445T>C
XM_011514008.3:c.*445T>C XP_011512310.1:n.*445T>C
XM_011514011.2:c.*445T>C XP_011512313.1:n.*445T>C
NM_001243093.2:c.*445T>C NP_001230022.1:n.*445T>C
NM_001349333.2:c.*445T>C NP_001336262.1:n.*445T>C
NM_001465.6:c.*445T>C MANE Select NP_001456.3:n.*445T>C
NM_199335.5:c.*445T>C NP_955367.1:n.*445T>C
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