Canonical Allele Identifier: CA1105631
Gene: FLG HGNC NCBI

Linked Data

ClinVar Variation Id: 1207207
ClinVar RCV Id: RCV001575120
dbSNP Id: rs144574658
ExAC: 1:152281646 A / C
gnomAD v2: 1-152281646-A-C
gnomAD v3: 1-152309170-A-C
gnomAD v4: 1-152309170-A-C
MyVariant Identifiers: chr1:g.152281646A>C (hg19) chr1:g.152309170A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152309170A>C , CM000663.2:g.152309170A>C GRCh38
NC_000001.10:g.152281646A>C , CM000663.1:g.152281646A>C GRCh37
NC_000001.9:g.150548270A>C NCBI36
NG_016190.1:g.21034T>G , LRG_1028:g.21034T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.5716T>G MANE Select ENSP00000357789.1:p.Ser1906Ala
ENST00000368799.1:c.5716T>G ENSP00000357789.1:p.Ser1906Ala
NM_002016.1:c.5716T>G , LRG_1028t1:c.5716T>G NP_002007.1:p.Ser1906Ala
XM_011509329.1:c.5716T>G XP_011507631.1:p.Ser1906Ala
NM_002016.2:c.5716T>G MANE Select NP_002007.1:p.Ser1906Ala
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