Canonical Allele Identifier: CA235752
Gene: FLG HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.152303313C>T
GRCh37 chr1:g.152275789C>T
Revel Score:
ENST00000368799 (MANE Select) 0.019
gnomAD v2:
1:152275789 C / T
gnomAD v3:
1:152303313 C / T
gnomAD v4:
chr1-152303313-C-T
Joint Max Group AF 0.03852578 (AFR)
Genomes Max Group AF 0.0375922 (AFR)
Exomes Max Group AF 0.03859209 (AFR)
ClinVar RCV:
RCV000171158
ClinVar Variation:
190986
dbSNP:
74129447
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152303313C>T , CM000663.2:g.152303313C>T GRCh38
NC_000001.10:g.152275789C>T , CM000663.1:g.152275789C>T GRCh37
NC_000001.9:g.150542413C>T NCBI36
NG_016190.1:g.26891G>A , LRG_1028:g.26891G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.11573G>A MANE Select ENSP00000357789.1:p.Arg3858His
ENST00000368799.1:c.11573G>A ENSP00000357789.1:p.Arg3858His
NM_002016.1:c.11573G>A , LRG_1028t1:c.11573G>A NP_002007.1:p.Arg3858His
XM_011509329.1:c.9629G>A XP_011507631.1:p.Arg3210His
NM_002016.2:c.11573G>A MANE Select NP_002007.1:p.Arg3858His
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