Canonical Allele Identifier: CA1103258
Gene: FLG HGNC NCBI

Linked Data

ClinVar Variation Id: 2247345
ClinVar RCV Id: RCV002781743
dbSNP Id: rs774443193
ExAC: 1:152276747 C / A
gnomAD v2: 1-152276747-C-A
gnomAD v4: 1-152304271-C-A
MyVariant Identifiers: chr1:g.152276747C>A (hg19) chr1:g.152304271C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152304271C>A , CM000663.2:g.152304271C>A GRCh38
NC_000001.10:g.152276747C>A , CM000663.1:g.152276747C>A GRCh37
NC_000001.9:g.150543371C>A NCBI36
NG_016190.1:g.25933G>T , LRG_1028:g.25933G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.10615G>T MANE Select ENSP00000357789.1:p.Val3539Phe
ENST00000368799.1:c.10615G>T ENSP00000357789.1:p.Val3539Phe
NM_002016.1:c.10615G>T , LRG_1028t1:c.10615G>T NP_002007.1:p.Val3539Phe
XM_011509329.1:c.9109-438G>T XP_011507631.1:n.9109-438G>T
NM_002016.2:c.10615G>T MANE Select NP_002007.1:p.Val3539Phe
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