Canonical Allele Identifier: CA1107136
Gene: FLG HGNC NCBI

Linked Data

ClinVar Variation Id: 1230019
ClinVar RCV Id: RCV001612367 RCV003339689
dbSNP Id: rs3120653
ExAC: 1:152284854 A / G
gnomAD v2: 1-152284854-A-G
gnomAD v3: 1-152312378-A-G
gnomAD v4: 1-152312378-A-G
MyVariant Identifiers: chr1:g.152284854A>G (hg19) chr1:g.152312378A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152312378A>G , CM000663.2:g.152312378A>G GRCh38
NC_000001.10:g.152284854A>G , CM000663.1:g.152284854A>G GRCh37
NC_000001.9:g.150551478A>G NCBI36
NG_016190.1:g.17826T>C , LRG_1028:g.17826T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.2508T>C MANE Select ENSP00000357789.1:p.Asp836=
ENST00000368799.1:c.2508T>C ENSP00000357789.1:p.Asp836=
NM_002016.1:c.2508T>C , LRG_1028t1:c.2508T>C NP_002007.1:p.Asp836=
XM_011509329.1:c.2508T>C XP_011507631.1:p.Asp836=
NM_002016.2:c.2508T>C MANE Select NP_002007.1:p.Asp836=
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