Canonical Allele Identifier: CA1105295
Gene: FLG HGNC NCBI

Linked Data

ClinVar Variation Id: 2268794
ClinVar RCV Id: RCV002794103
dbSNP Id: rs780393149
ExAC: 1:152281028 C / T
gnomAD v2: 1-152281028-C-T
gnomAD v3: 1-152308552-C-T
gnomAD v4: 1-152308552-C-T
MyVariant Identifiers: chr1:g.152281028C>T (hg19) chr1:g.152308552C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152308552C>T , CM000663.2:g.152308552C>T GRCh38
NC_000001.10:g.152281028C>T , CM000663.1:g.152281028C>T GRCh37
NC_000001.9:g.150547652C>T NCBI36
NG_016190.1:g.21652G>A , LRG_1028:g.21652G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000368799.2:c.6334G>A MANE Select ENSP00000357789.1:p.Gly2112Arg
ENST00000368799.1:c.6334G>A ENSP00000357789.1:p.Gly2112Arg
NM_002016.1:c.6334G>A , LRG_1028t1:c.6334G>A NP_002007.1:p.Gly2112Arg
XM_011509329.1:c.6334G>A XP_011507631.1:p.Gly2112Arg
NM_002016.2:c.6334G>A MANE Select NP_002007.1:p.Gly2112Arg
Search 100 bp 5'
Search 100 bp 3'