Canonical Allele Identifier: CA1107127
Gene: FLG HGNC NCBI

Linked Data

dbSNP Id: rs374217178
ExAC: 1:152284837 C / A
gnomAD v3: 1-152312361-C-A
gnomAD v4: 1-152312361-C-A
MyVariant Identifiers: chr1:g.152284837C>A (hg19) chr1:g.152312361C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152312361C>A , CM000663.2:g.152312361C>A GRCh38
NC_000001.10:g.152284837C>A , CM000663.1:g.152284837C>A GRCh37
NC_000001.9:g.150551461C>A NCBI36
NG_016190.1:g.17843G>T , LRG_1028:g.17843G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.2525G>T MANE Select ENSP00000357789.1:p.Arg842Leu
ENST00000368799.1:c.2525G>T ENSP00000357789.1:p.Arg842Leu
NM_002016.1:c.2525G>T , LRG_1028t1:c.2525G>T NP_002007.1:p.Arg842Leu
XM_011509329.1:c.2525G>T XP_011507631.1:p.Arg842Leu
NM_002016.2:c.2525G>T MANE Select NP_002007.1:p.Arg842Leu
Search 100 bp 5'
Search 100 bp 3'