Canonical Allele Identifier: CA342090452
Gene: FLG HGNC NCBI

Linked Data

ClinVar Variation Id: 2268010
ClinVar RCV Id: RCV002809229
dbSNP Id: rs1437547681
gnomAD v4: 1-152312554-A-G
MyVariant Identifiers: chr1:g.152285030A>G (hg19) chr1:g.152312554A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152312554A>G , CM000663.2:g.152312554A>G GRCh38
NC_000001.10:g.152285030A>G , CM000663.1:g.152285030A>G GRCh37
NC_000001.9:g.150551654A>G NCBI36
NG_016190.1:g.17650T>C , LRG_1028:g.17650T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.2332T>C MANE Select ENSP00000357789.1:p.Ser778Pro
ENST00000368799.1:c.2332T>C ENSP00000357789.1:p.Ser778Pro
NM_002016.1:c.2332T>C , LRG_1028t1:c.2332T>C NP_002007.1:p.Ser778Pro
XM_011509329.1:c.2332T>C XP_011507631.1:p.Ser778Pro
NM_002016.2:c.2332T>C MANE Select NP_002007.1:p.Ser778Pro
Search 100 bp 5'
Search 100 bp 3'