Canonical Allele Identifier: CA1107166
Gene: FLG HGNC NCBI

Linked Data

dbSNP Id: rs769144771
ExAC: 1:152284916 C / G
gnomAD v2: 1-152284916-C-G
gnomAD v4: 1-152312440-C-G
MyVariant Identifiers: chr1:g.152284916C>G (hg19) chr1:g.152312440C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152312440C>G , CM000663.2:g.152312440C>G GRCh38
NC_000001.10:g.152284916C>G , CM000663.1:g.152284916C>G GRCh37
NC_000001.9:g.150551540C>G NCBI36
NG_016190.1:g.17764G>C , LRG_1028:g.17764G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.2446G>C MANE Select ENSP00000357789.1:p.Val816Leu
ENST00000368799.1:c.2446G>C ENSP00000357789.1:p.Val816Leu
NM_002016.1:c.2446G>C , LRG_1028t1:c.2446G>C NP_002007.1:p.Val816Leu
XM_011509329.1:c.2446G>C XP_011507631.1:p.Val816Leu
NM_002016.2:c.2446G>C MANE Select NP_002007.1:p.Val816Leu
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