Canonical Allele Identifier: CA1105427
Gene: FLG HGNC NCBI

Linked Data

ClinVar Variation Id: 1263645
ClinVar RCV Id: RCV001674639 RCV003339709
dbSNP Id: rs80353812
ExAC: 1:152281290 A / G
gnomAD v2: 1-152281290-A-G
gnomAD v3: 1-152308814-A-G
gnomAD v4: 1-152308814-A-G
MyVariant Identifiers: chr1:g.152281290A>G (hg19) chr1:g.152308814A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152308814A>G , CM000663.2:g.152308814A>G GRCh38
NC_000001.10:g.152281290A>G , CM000663.1:g.152281290A>G GRCh37
NC_000001.9:g.150547914A>G NCBI36
NG_016190.1:g.21390T>C , LRG_1028:g.21390T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.6072T>C MANE Select ENSP00000357789.1:p.His2024=
ENST00000368799.1:c.6072T>C ENSP00000357789.1:p.His2024=
NM_002016.1:c.6072T>C , LRG_1028t1:c.6072T>C NP_002007.1:p.His2024=
XM_011509329.1:c.6072T>C XP_011507631.1:p.His2024=
NM_002016.2:c.6072T>C MANE Select NP_002007.1:p.His2024=
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