Canonical Allele Identifier: CA1105383
Gene: FLG HGNC NCBI

Linked Data

ClinVar Variation Id: 1205894
ClinVar RCV Id: RCV001572762 RCV001724355
dbSNP Id: rs74129455
ExAC: 1:152281172 T / G
gnomAD v2: 1-152281172-T-G
gnomAD v3: 1-152308696-T-G
gnomAD v4: 1-152308696-T-G
MyVariant Identifiers: chr1:g.152281172T>G (hg19) chr1:g.152308696T>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152308696T>G , CM000663.2:g.152308696T>G GRCh38
NC_000001.10:g.152281172T>G , CM000663.1:g.152281172T>G GRCh37
NC_000001.9:g.150547796T>G NCBI36
NG_016190.1:g.21508A>C , LRG_1028:g.21508A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.6190A>C MANE Select ENSP00000357789.1:p.Lys2064Gln
ENST00000368799.1:c.6190A>C ENSP00000357789.1:p.Lys2064Gln
NM_002016.1:c.6190A>C , LRG_1028t1:c.6190A>C NP_002007.1:p.Lys2064Gln
XM_011509329.1:c.6190A>C XP_011507631.1:p.Lys2064Gln
NM_002016.2:c.6190A>C MANE Select NP_002007.1:p.Lys2064Gln
Search 100 bp 5'
Search 100 bp 3'