Canonical Allele Identifier: CA1105456
Gene: FLG HGNC NCBI

Linked Data

dbSNP Id: rs202005168
ExAC: 1:152281332 C / T
gnomAD v2: 1-152281332-C-T
gnomAD v3: 1-152308856-C-T
gnomAD v4: 1-152308856-C-T
MyVariant Identifiers: chr1:g.152281332C>T (hg19) chr1:g.152281332_152281335delinsTTGG (hg19) chr1:g.152308856C>T (hg38) chr1:g.152308856_152308859delinsTTGG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152308856C>T , CM000663.2:g.152308856C>T GRCh38
NC_000001.10:g.152281332C>T , CM000663.1:g.152281332C>T GRCh37
NC_000001.9:g.150547956C>T NCBI36
NG_016190.1:g.21348G>A , LRG_1028:g.21348G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.6030G>A MANE Select ENSP00000357789.1:p.Gln2010=
ENST00000368799.1:c.6030G>A ENSP00000357789.1:p.Gln2010=
NM_002016.1:c.6030G>A , LRG_1028t1:c.6030G>A NP_002007.1:p.Gln2010=
XM_011509329.1:c.6030G>A XP_011507631.1:p.Gln2010=
NM_002016.2:c.6030G>A MANE Select NP_002007.1:p.Gln2010=
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Search 100 bp 3'