Canonical Allele Identifier: CA420930447
Gene: FLG HGNC NCBI

Linked Data

dbSNP Id: rs768886062
gnomAD v3: 1-152311220-C-T
gnomAD v4: 1-152311220-C-T
COSMIC: COSM3474047
MyVariant Identifiers: chr1:g.152283696C>T (hg19) chr1:g.152311220C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152311220C>T , CM000663.2:g.152311220C>T GRCh38
NC_000001.10:g.152283696C>T , CM000663.1:g.152283696C>T GRCh37
NC_000001.9:g.150550320C>T NCBI36
NG_016190.1:g.18984G>A , LRG_1028:g.18984G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.3666G>A MANE Select ENSP00000357789.1:p.Lys1222=
ENST00000368799.1:c.3666G>A ENSP00000357789.1:p.Lys1222=
NM_002016.1:c.3666G>A , LRG_1028t1:c.3666G>A NP_002007.1:p.Lys1222=
XM_011509329.1:c.3666G>A XP_011507631.1:p.Lys1222=
NM_002016.2:c.3666G>A MANE Select NP_002007.1:p.Lys1222=
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