Canonical Allele Identifier: CA1102856
Gene: FLG HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.152303313C>A
GRCh37 chr1:g.152275789C>A
Revel Score:
ENST00000368799 (MANE Select) 0.018
gnomAD v2:
1:152275789 C / A
gnomAD v3:
1:152303313 C / A
gnomAD v4:
chr1-152303313-C-A
Joint Max Group AF 0.00024254 (NFE)
Genomes Max Group AF 0.00009052 (NFE)
Exomes Max Group AF 0.00024756 (NFE)
dbSNP:
74129447
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.11573G>T MANE Select ENSP00000357789.1:p.Arg3858Leu
ENST00000368799.1:c.11573G>T ENSP00000357789.1:p.Arg3858Leu
NM_002016.1:c.11573G>T , LRG_1028t1:c.11573G>T NP_002007.1:p.Arg3858Leu
XM_011509329.1:c.9629G>T XP_011507631.1:p.Arg3210Leu
NM_002016.2:c.11573G>T MANE Select NP_002007.1:p.Arg3858Leu
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