Canonical Allele Identifier: CA1134629
Gene: FLAD1 HGNC NCBI
COSMIC:
COSM896707
MyVariant.info:
GRCh38 chr1:g.154992746C>T
GRCh37 chr1:g.154965222C>T
Revel Score:
ENST00000315144 0.628
ENST00000368432 0.628
ENST00000292180 (MANE Select) 0.628
ENST00000368428 0.628
gnomAD v2:
1:154965222 C / T
gnomAD v3:
1:154992746 C / T
gnomAD v4:
chr1-154992746-C-T
Joint Max Group AF 0.00002863 (SAS)
Genomes Max Group AF 0.00001171 (NFE)
Exomes Max Group AF 0.00002995 (SAS)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.154992746C>T , CM000663.2:g.154992746C>T GRCh38
NC_000001.10:g.154965222C>T , CM000663.1:g.154965222C>T GRCh37
NC_000001.9:g.153231846C>T NCBI36
NG_042310.1:g.14453C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000292180.8:c.1588C>T MANE Select ENSP00000292180.3:p.Arg530Cys
ENST00000292180.7:c.1588C>T ENSP00000292180.3:p.Arg530Cys
ENST00000295530.6:c.*11+73C>T ENSP00000295530.2:n.*11+73C>T
ENST00000315144.14:c.1297C>T ENSP00000317296.10:p.Arg433Cys
ENST00000368428.1:c.211C>T ENSP00000357413.1:p.Arg71Cys
ENST00000368432.5:c.1297C>T ENSP00000357417.1:p.Arg433Cys
ENST00000477609.5:n.344+73C>T
ENST00000481758.1:n.158C>T
ENST00000489992.5:n.398C>T
NM_001184891.1:c.1297C>T NP_001171820.1:p.Arg433Cys
NM_025207.4:c.1588C>T NP_079483.3:p.Arg530Cys
NM_201398.2:c.1297C>T NP_958800.1:p.Arg433Cys
XM_005245503.2:c.787C>T XP_005245560.1:p.Arg263Cys
XR_241098.3:n.1358C>T
NM_025207.5:c.1588C>T MANE Select NP_079483.3:p.Arg530Cys
NM_001184891.2:c.1297C>T NP_001171820.1:p.Arg433Cys
NM_201398.3:c.1297C>T NP_958800.1:p.Arg433Cys
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