Canonical Allele Identifier: CA1106632
Gene: FLG HGNC NCBI
COSMIC:
COSM1334144 (not active)
MyVariant.info:
GRCh38 chr1:g.152311335G>A
GRCh37 chr1:g.152283811G>A
Revel Score:
ENST00000368799 (MANE Select) 0.023
gnomAD v2:
1:152283811 G / A
gnomAD v3:
1:152311335 G / A
gnomAD v4:
chr1-152311335-G-A
Joint Max Group AF 0.34159718 (AFR)
Genomes Max Group AF 0.33735136 (AFR)
Exomes Max Group AF 0.34359281 (AFR)
ClinVar RCV:
RCV001696622
ClinVar Variation:
1283478
dbSNP:
3120649
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152311335G>A , CM000663.2:g.152311335G>A GRCh38
NC_000001.10:g.152283811G>A , CM000663.1:g.152283811G>A GRCh37
NC_000001.9:g.150550435G>A NCBI36
NG_016190.1:g.18869C>T , LRG_1028:g.18869C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.3551C>T MANE Select ENSP00000357789.1:p.Ser1184Leu
ENST00000368799.1:c.3551C>T ENSP00000357789.1:p.Ser1184Leu
NM_002016.1:c.3551C>T , LRG_1028t1:c.3551C>T NP_002007.1:p.Ser1184Leu
XM_011509329.1:c.3551C>T XP_011507631.1:p.Ser1184Leu
NM_002016.2:c.3551C>T MANE Select NP_002007.1:p.Ser1184Leu
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