Canonical Allele Identifier: CA1106918
Gene: FLG HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.152311957G>A
GRCh37 chr1:g.152284433G>A
gnomAD v2:
1:152284433 G / A
gnomAD v3:
1:152311957 G / A
gnomAD v4:
chr1-152311957-G-A
Joint Max Group AF 0.00012748 (NFE)
Genomes Max Group AF 0.00019439 (NFE)
Exomes Max Group AF 0.00011895 (NFE)
ClinVar RCV:
RCV000255941
RCV001254159
ClinVar Variation:
265537
dbSNP:
144419479
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152311957G>A , CM000663.2:g.152311957G>A GRCh38
NC_000001.10:g.152284433G>A , CM000663.1:g.152284433G>A GRCh37
NC_000001.9:g.150551057G>A NCBI36
NG_016190.1:g.18247C>T , LRG_1028:g.18247C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.2929C>T MANE Select ENSP00000357789.1:p.Gln977Ter
ENST00000368799.1:c.2929C>T ENSP00000357789.1:p.Gln977Ter
NM_002016.1:c.2929C>T , LRG_1028t1:c.2929C>T NP_002007.1:p.Gln977Ter
XM_011509329.1:c.2929C>T XP_011507631.1:p.Gln977Ter
NM_002016.2:c.2929C>T MANE Select NP_002007.1:p.Gln977Ter
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