Canonical Allele Identifier: CA1134342

Gene: FLAD1

Linked Data

• ClinVar Variation Id: 1899426
• ClinVar RCV Id: RCV002570307 ; RCV002582741
• dbSNP Id: rs768977246
• ExAC: 1:154960714 G / A
• gnomAD v2: 1-154960714-G-A
• gnomAD v3: 1-154988238-G-A
• gnomAD v4: 1-154988238-G-A
• MyVariant Identifiers: chr1:g.154960714G>A (hg19) ; chr1:g.154988238G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.154988238G>A , CM000663.2:g.154988238G>A	GRCh38
NC_000001.10:g.154960714G>A , CM000663.1:g.154960714G>A	GRCh37
NC_000001.9:g.153227338G>A	NCBI36
NG_042310.1:g.9945G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000292180.8:c.506G>A MANE Select	ENSP00000292180.3:p.Arg169His
ENST00000292180.7:c.506G>A	ENSP00000292180.3:p.Arg169His
ENST00000295530.6:c.-296G>A	ENSP00000295530.2:n.-296G>A
ENST00000315144.14:c.215G>A	ENSP00000317296.10:p.Arg72His
ENST00000368431.7:c.209G>A	ENSP00000357416.3:p.Arg70His
ENST00000368432.5:c.215G>A	ENSP00000357417.1:p.Arg72His
ENST00000368433.5:c.506G>A	ENSP00000357418.1:p.Arg169His
ENST00000487371.1:n.562G>A
NM_001184891.1:c.215G>A	NP_001171820.1:p.Arg72His
NM_001184892.1:c.209G>A	NP_001171821.1:p.Arg70His
NM_025207.4:c.506G>A	NP_079483.3:p.Arg169His
NM_201398.2:c.215G>A	NP_958800.1:p.Arg72His
XM_005245502.2:c.215G>A	XP_005245559.1:p.Arg72His
XM_005245503.2:c.-296G>A	XP_005245560.1:n.-296G>A
XM_006711559.2:c.215G>A	XP_006711622.1:p.Arg72His
XR_241098.3:n.424G>A
NM_025207.5:c.506G>A MANE Select	NP_079483.3:p.Arg169His
NM_001184891.2:c.215G>A	NP_001171820.1:p.Arg72His
NM_001184892.2:c.209G>A	NP_001171821.1:p.Arg70His
NM_201398.3:c.215G>A	NP_958800.1:p.Arg72His