Canonical Allele Identifier: CA1106682
Gene: FLG HGNC NCBI

Linked Data

ClinVar Variation Id: 2589210
ClinVar RCV Id: RCV003363360
dbSNP Id: rs769215947
ExAC: 1:152283924 G / T
gnomAD v2: 1-152283924-G-T
gnomAD v3: 1-152311448-G-T
gnomAD v4: 1-152311448-G-T
MyVariant Identifiers: chr1:g.152283924G>T (hg19) chr1:g.152311448G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152311448G>T , CM000663.2:g.152311448G>T GRCh38
NC_000001.10:g.152283924G>T , CM000663.1:g.152283924G>T GRCh37
NC_000001.9:g.150550548G>T NCBI36
NG_016190.1:g.18756C>A , LRG_1028:g.18756C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.3438C>A MANE Select ENSP00000357789.1:p.His1146Gln
ENST00000368799.1:c.3438C>A ENSP00000357789.1:p.His1146Gln
NM_002016.1:c.3438C>A , LRG_1028t1:c.3438C>A NP_002007.1:p.His1146Gln
XM_011509329.1:c.3438C>A XP_011507631.1:p.His1146Gln
NM_002016.2:c.3438C>A MANE Select NP_002007.1:p.His1146Gln
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