Canonical Allele Identifier: CA1104870
Gene: FLG HGNC NCBI

Linked Data

dbSNP Id: rs777802145
ExAC: 1:152280183 C / T
gnomAD v2: 1-152280183-C-T
gnomAD v4: 1-152307707-C-T
MyVariant Identifiers: chr1:g.152280183C>T (hg19) chr1:g.152307707C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152307707C>T , CM000663.2:g.152307707C>T GRCh38
NC_000001.10:g.152280183C>T , CM000663.1:g.152280183C>T GRCh37
NC_000001.9:g.150546807C>T NCBI36
NG_016190.1:g.22497G>A , LRG_1028:g.22497G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.7179G>A MANE Select ENSP00000357789.1:p.Gln2393=
ENST00000368799.1:c.7179G>A ENSP00000357789.1:p.Gln2393=
NM_002016.1:c.7179G>A , LRG_1028t1:c.7179G>A NP_002007.1:p.Gln2393=
XM_011509329.1:c.7179G>A XP_011507631.1:p.Gln2393=
NM_002016.2:c.7179G>A MANE Select NP_002007.1:p.Gln2393=
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