Canonical Allele Identifier: CA1106264
Gene: FLG HGNC NCBI

Linked Data

ClinVar Variation Id: 2342261
ClinVar RCV Id: RCV002926198
dbSNP Id: rs147463305
ExAC: 1:152283018 A / C
gnomAD v2: 1-152283018-A-C
gnomAD v3: 1-152310542-A-C
gnomAD v4: 1-152310542-A-C
MyVariant Identifiers: chr1:g.152283018A>C (hg19) chr1:g.152310542A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152310542A>C , CM000663.2:g.152310542A>C GRCh38
NC_000001.10:g.152283018A>C , CM000663.1:g.152283018A>C GRCh37
NC_000001.9:g.150549642A>C NCBI36
NG_016190.1:g.19662T>G , LRG_1028:g.19662T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.4344T>G MANE Select ENSP00000357789.1:p.His1448Gln
ENST00000368799.1:c.4344T>G ENSP00000357789.1:p.His1448Gln
NM_002016.1:c.4344T>G , LRG_1028t1:c.4344T>G NP_002007.1:p.His1448Gln
XM_011509329.1:c.4344T>G XP_011507631.1:p.His1448Gln
NM_002016.2:c.4344T>G MANE Select NP_002007.1:p.His1448Gln
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