Canonical Allele Identifier: CA1104839
Gene: FLG HGNC NCBI

Linked Data

dbSNP Id: rs201701803
ExAC: 1:152280133 C / A
gnomAD v2: 1-152280133-C-A
gnomAD v3: 1-152307657-C-A
gnomAD v4: 1-152307657-C-A
MyVariant Identifiers: chr1:g.152280133C>A (hg19) chr1:g.152307657C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152307657C>A , CM000663.2:g.152307657C>A GRCh38
NC_000001.10:g.152280133C>A , CM000663.1:g.152280133C>A GRCh37
NC_000001.9:g.150546757C>A NCBI36
NG_016190.1:g.22547G>T , LRG_1028:g.22547G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.7229G>T MANE Select ENSP00000357789.1:p.Arg2410Leu
ENST00000368799.1:c.7229G>T ENSP00000357789.1:p.Arg2410Leu
NM_002016.1:c.7229G>T , LRG_1028t1:c.7229G>T NP_002007.1:p.Arg2410Leu
XM_011509329.1:c.7229G>T XP_011507631.1:p.Arg2410Leu
NM_002016.2:c.7229G>T MANE Select NP_002007.1:p.Arg2410Leu
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