Canonical Allele Identifier: CA1105351
Gene: FLG HGNC NCBI

Linked Data

dbSNP Id: rs751279387
ExAC: 1:152281125 C / G
gnomAD v2: 1-152281125-C-G
gnomAD v3: 1-152308649-C-G
gnomAD v4: 1-152308649-C-G
MyVariant Identifiers: chr1:g.152281125C>G (hg19) chr1:g.152308649C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152308649C>G , CM000663.2:g.152308649C>G GRCh38
NC_000001.10:g.152281125C>G , CM000663.1:g.152281125C>G GRCh37
NC_000001.9:g.150547749C>G NCBI36
NG_016190.1:g.21555G>C , LRG_1028:g.21555G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.6237G>C MANE Select ENSP00000357789.1:p.Gln2079His
ENST00000368799.1:c.6237G>C ENSP00000357789.1:p.Gln2079His
NM_002016.1:c.6237G>C , LRG_1028t1:c.6237G>C NP_002007.1:p.Gln2079His
XM_011509329.1:c.6237G>C XP_011507631.1:p.Gln2079His
NM_002016.2:c.6237G>C MANE Select NP_002007.1:p.Gln2079His
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