Canonical Allele Identifier: CA1107880
Gene: FLG HGNC NCBI

Linked Data

dbSNP Id: rs776755737
ExAC: 1:152286480 T / G
gnomAD v2: 1-152286480-T-G
gnomAD v3: 1-152314004-T-G
gnomAD v4: 1-152314004-T-G
MyVariant Identifiers: chr1:g.152286480T>G (hg19) chr1:g.152314004T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152314004T>G , CM000663.2:g.152314004T>G GRCh38
NC_000001.10:g.152286480T>G , CM000663.1:g.152286480T>G GRCh37
NC_000001.9:g.150553104T>G NCBI36
NG_016190.1:g.16200A>C , LRG_1028:g.16200A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000368799.2:c.882A>C MANE Select ENSP00000357789.1:p.Gly294=
ENST00000368799.1:c.882A>C ENSP00000357789.1:p.Gly294=
NM_002016.1:c.882A>C , LRG_1028t1:c.882A>C NP_002007.1:p.Gly294=
NR_103778.1:n.546T>G
XM_011509329.1:c.882A>C XP_011507631.1:p.Gly294=
NM_002016.2:c.882A>C MANE Select NP_002007.1:p.Gly294=
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