Canonical Allele Identifier: CA342088908
Gene: FLG HGNC NCBI

Linked Data

ClinVar Variation Id: 3095452
ClinVar RCV Id: RCV004386770
dbSNP Id: rs371034537
gnomAD v2: 1-152284798-G-C
gnomAD v3: 1-152312322-G-C
gnomAD v4: 1-152312322-G-C
MyVariant Identifiers: chr1:g.152284798G>C (hg19) chr1:g.152312322G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152312322G>C , CM000663.2:g.152312322G>C GRCh38
NC_000001.10:g.152284798G>C , CM000663.1:g.152284798G>C GRCh37
NC_000001.9:g.150551422G>C NCBI36
NG_016190.1:g.17882C>G , LRG_1028:g.17882C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.2564C>G MANE Select ENSP00000357789.1:p.Ser855Cys
ENST00000368799.1:c.2564C>G ENSP00000357789.1:p.Ser855Cys
NM_002016.1:c.2564C>G , LRG_1028t1:c.2564C>G NP_002007.1:p.Ser855Cys
XM_011509329.1:c.2564C>G XP_011507631.1:p.Ser855Cys
NM_002016.2:c.2564C>G MANE Select NP_002007.1:p.Ser855Cys
Search 100 bp 5'
Search 100 bp 3'