Canonical Allele Identifier: CA1105659
Gene: FLG HGNC NCBI

Linked Data

ClinVar Variation Id: 2230756
ClinVar RCV Id: RCV002717769
dbSNP Id: rs561302791
ExAC: 1:152281700 C / G
gnomAD v2: 1-152281700-C-G
gnomAD v3: 1-152309224-C-G
gnomAD v4: 1-152309224-C-G
MyVariant Identifiers: chr1:g.152281700C>G (hg19) chr1:g.152309224C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152309224C>G , CM000663.2:g.152309224C>G GRCh38
NC_000001.10:g.152281700C>G , CM000663.1:g.152281700C>G GRCh37
NC_000001.9:g.150548324C>G NCBI36
NG_016190.1:g.20980G>C , LRG_1028:g.20980G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.5662G>C MANE Select ENSP00000357789.1:p.Ala1888Pro
ENST00000368799.1:c.5662G>C ENSP00000357789.1:p.Ala1888Pro
NM_002016.1:c.5662G>C , LRG_1028t1:c.5662G>C NP_002007.1:p.Ala1888Pro
XM_011509329.1:c.5662G>C XP_011507631.1:p.Ala1888Pro
NM_002016.2:c.5662G>C MANE Select NP_002007.1:p.Ala1888Pro
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