Canonical Allele Identifier: CA1106231
Gene: FLG HGNC NCBI

Linked Data

ClinVar Variation Id: 1206128
ClinVar RCV Id: RCV001573346
dbSNP Id: rs200551704
ExAC: 1:152282941 C / T
gnomAD v2: 1-152282941-C-T
gnomAD v3: 1-152310465-C-T
gnomAD v4: 1-152310465-C-T
COSMIC: COSM2206624
MyVariant Identifiers: chr1:g.152282941C>T (hg19) chr1:g.152310465C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152310465C>T , CM000663.2:g.152310465C>T GRCh38
NC_000001.10:g.152282941C>T , CM000663.1:g.152282941C>T GRCh37
NC_000001.9:g.150549565C>T NCBI36
NG_016190.1:g.19739G>A , LRG_1028:g.19739G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.4421G>A MANE Select ENSP00000357789.1:p.Arg1474Gln
ENST00000368799.1:c.4421G>A ENSP00000357789.1:p.Arg1474Gln
NM_002016.1:c.4421G>A , LRG_1028t1:c.4421G>A NP_002007.1:p.Arg1474Gln
XM_011509329.1:c.4421G>A XP_011507631.1:p.Arg1474Gln
NM_002016.2:c.4421G>A MANE Select NP_002007.1:p.Arg1474Gln
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