Canonical Allele Identifier: CA1105325
Gene: FLG HGNC NCBI

Linked Data

dbSNP Id: rs761806799
ExAC: 1:152281088 A / G
gnomAD v2: 1-152281088-A-G
gnomAD v4: 1-152308612-A-G
MyVariant Identifiers: chr1:g.152281088A>G (hg19) chr1:g.152308612A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152308612A>G , CM000663.2:g.152308612A>G GRCh38
NC_000001.10:g.152281088A>G , CM000663.1:g.152281088A>G GRCh37
NC_000001.9:g.150547712A>G NCBI36
NG_016190.1:g.21592T>C , LRG_1028:g.21592T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.6274T>C MANE Select ENSP00000357789.1:p.Tyr2092His
ENST00000368799.1:c.6274T>C ENSP00000357789.1:p.Tyr2092His
NM_002016.1:c.6274T>C , LRG_1028t1:c.6274T>C NP_002007.1:p.Tyr2092His
XM_011509329.1:c.6274T>C XP_011507631.1:p.Tyr2092His
NM_002016.2:c.6274T>C MANE Select NP_002007.1:p.Tyr2092His
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