Canonical Allele Identifier: CA1103268
Gene: FLG HGNC NCBI

Linked Data

ClinVar Variation Id: 1237029
ClinVar RCV Id: RCV001639544
dbSNP Id: rs72697000
ExAC: 1:152276772 C / A
gnomAD v2: 1-152276772-C-A
gnomAD v3: 1-152304296-C-A
gnomAD v4: 1-152304296-C-A
MyVariant Identifiers: chr1:g.152276772C>A (hg19) chr1:g.152304296C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152304296C>A , CM000663.2:g.152304296C>A GRCh38
NC_000001.10:g.152276772C>A , CM000663.1:g.152276772C>A GRCh37
NC_000001.9:g.150543396C>A NCBI36
NG_016190.1:g.25908G>T , LRG_1028:g.25908G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.10590G>T MANE Select ENSP00000357789.1:p.Arg3530Ser
ENST00000368799.1:c.10590G>T ENSP00000357789.1:p.Arg3530Ser
NM_002016.1:c.10590G>T , LRG_1028t1:c.10590G>T NP_002007.1:p.Arg3530Ser
XM_011509329.1:c.9109-463G>T XP_011507631.1:n.9109-463G>T
NM_002016.2:c.10590G>T MANE Select NP_002007.1:p.Arg3530Ser
Search 100 bp 5'
Search 100 bp 3'