Canonical Allele Identifier: CA1107151
Gene: FLG HGNC NCBI
ClinVar RCV:
RCV000255117
RCV000986414
RCV001255624
RCV003401213
ClinVar Variation:
265156
dbSNP:
115746363
gnomAD v2:
1:152284886 G / A
gnomAD v3:
1:152312410 G / A
gnomAD v4:
chr1-152312410-G-A
Joint Max Group AF 0.00781631 (AFR)
Genomes Max Group AF 0.00649521 (AFR)
Exomes Max Group AF 0.0089552 (AFR)
MyVariant.info:
GRCh38 chr1:g.152312410G>A
GRCh37 chr1:g.152284886G>A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152312410G>A , CM000663.2:g.152312410G>A GRCh38
NC_000001.10:g.152284886G>A , CM000663.1:g.152284886G>A GRCh37
NC_000001.9:g.150551510G>A NCBI36
NG_016190.1:g.17794C>T , LRG_1028:g.17794C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.2476C>T MANE Select ENSP00000357789.1:p.Arg826Ter
ENST00000368799.1:c.2476C>T ENSP00000357789.1:p.Arg826Ter
NM_002016.1:c.2476C>T , LRG_1028t1:c.2476C>T NP_002007.1:p.Arg826Ter
XM_011509329.1:c.2476C>T XP_011507631.1:p.Arg826Ter
NM_002016.2:c.2476C>T MANE Select NP_002007.1:p.Arg826Ter
Search 100 bp 5'
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