Canonical Allele Identifier: CA1102783
Gene: FLG HGNC NCBI

Linked Data

ClinVar Variation Id: 1258538
ClinVar RCV Id: RCV001671068
dbSNP Id: rs3126065
ExAC: 1:152275559 A / G
gnomAD v2: 1-152275559-A-G
gnomAD v3: 1-152303083-A-G
gnomAD v4: 1-152303083-A-G
MyVariant Identifiers: chr1:g.152275559A>G (hg19) chr1:g.152303083A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152303083A>G , CM000663.2:g.152303083A>G GRCh38
NC_000001.10:g.152275559A>G , CM000663.1:g.152275559A>G GRCh37
NC_000001.9:g.150542183A>G NCBI36
NG_016190.1:g.27121T>C , LRG_1028:g.27121T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000368799.2:c.11803T>C MANE Select ENSP00000357789.1:p.Ser3935Pro
ENST00000368799.1:c.11803T>C ENSP00000357789.1:p.Ser3935Pro
NM_002016.1:c.11803T>C , LRG_1028t1:c.11803T>C NP_002007.1:p.Ser3935Pro
XM_011509329.1:c.9859T>C XP_011507631.1:p.Ser3287Pro
NM_002016.2:c.11803T>C MANE Select NP_002007.1:p.Ser3935Pro
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