Canonical Allele Identifier: CA1104824
Gene: FLG HGNC NCBI

Linked Data

ClinVar Variation Id: 265477
ClinVar RCV Id: RCV000255031 RCV002248494
dbSNP Id: rs374588791
ExAC: 1:152280098 C / A
gnomAD v2: 1-152280098-C-A
gnomAD v3: 1-152307622-C-A
gnomAD v4: 1-152307622-C-A
MyVariant Identifiers: chr1:g.152280098C>A (hg19) chr1:g.152307622C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152307622C>A , CM000663.2:g.152307622C>A GRCh38
NC_000001.10:g.152280098C>A , CM000663.1:g.152280098C>A GRCh37
NC_000001.9:g.150546722C>A NCBI36
NG_016190.1:g.22582G>T , LRG_1028:g.22582G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.7264G>T MANE Select ENSP00000357789.1:p.Glu2422Ter
ENST00000368799.1:c.7264G>T ENSP00000357789.1:p.Glu2422Ter
NM_002016.1:c.7264G>T , LRG_1028t1:c.7264G>T NP_002007.1:p.Glu2422Ter
XM_011509329.1:c.7264G>T XP_011507631.1:p.Glu2422Ter
NM_002016.2:c.7264G>T MANE Select NP_002007.1:p.Glu2422Ter
Search 100 bp 5'
Search 100 bp 3'