Canonical Allele Identifier: CA1105339
Gene: FLG HGNC NCBI

Linked Data

dbSNP Id: rs746024413
ExAC: 1:152281112 A / C
gnomAD v2: 1-152281112-A-C
gnomAD v4: 1-152308636-A-C
MyVariant Identifiers: chr1:g.152281112A>C (hg19) chr1:g.152308636A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152308636A>C , CM000663.2:g.152308636A>C GRCh38
NC_000001.10:g.152281112A>C , CM000663.1:g.152281112A>C GRCh37
NC_000001.9:g.150547736A>C NCBI36
NG_016190.1:g.21568T>G , LRG_1028:g.21568T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.6250T>G MANE Select ENSP00000357789.1:p.Ser2084Ala
ENST00000368799.1:c.6250T>G ENSP00000357789.1:p.Ser2084Ala
NM_002016.1:c.6250T>G , LRG_1028t1:c.6250T>G NP_002007.1:p.Ser2084Ala
XM_011509329.1:c.6250T>G XP_011507631.1:p.Ser2084Ala
NM_002016.2:c.6250T>G MANE Select NP_002007.1:p.Ser2084Ala
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