Canonical Allele Identifier: CA30557656
Gene: FLG HGNC NCBI

Linked Data

ClinVar Variation Id: 2262339
ClinVar RCV Id: RCV002808222
dbSNP Id: rs927863328
gnomAD v3: 1-152311405-C-T
gnomAD v4: 1-152311405-C-T
MyVariant Identifiers: chr1:g.152283881C>T (hg19) chr1:g.152311405C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152311405C>T , CM000663.2:g.152311405C>T GRCh38
NC_000001.10:g.152283881C>T , CM000663.1:g.152283881C>T GRCh37
NC_000001.9:g.150550505C>T NCBI36
NG_016190.1:g.18799G>A , LRG_1028:g.18799G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.3481G>A MANE Select ENSP00000357789.1:p.Gly1161Ser
ENST00000368799.1:c.3481G>A ENSP00000357789.1:p.Gly1161Ser
NM_002016.1:c.3481G>A , LRG_1028t1:c.3481G>A NP_002007.1:p.Gly1161Ser
XM_011509329.1:c.3481G>A XP_011507631.1:p.Gly1161Ser
NM_002016.2:c.3481G>A MANE Select NP_002007.1:p.Gly1161Ser
Search 100 bp 5'
Search 100 bp 3'