Canonical Allele Identifier: CA1105629
Gene: FLG HGNC NCBI

Linked Data

ClinVar Variation Id: 225363
ClinVar RCV Id: RCV000490339 RCV001777158
dbSNP Id: rs141784184
ExAC: 1:152281645 G / T
gnomAD v2: 1-152281645-G-T
gnomAD v3: 1-152309169-G-T
gnomAD v4: 1-152309169-G-T
MyVariant Identifiers: chr1:g.152281645G>T (hg19) chr1:g.152309169G>T (hg38)
PubMed: PMID:16550169 PMID:16815158
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152309169G>T , CM000663.2:g.152309169G>T GRCh38
NC_000001.10:g.152281645G>T , CM000663.1:g.152281645G>T GRCh37
NC_000001.9:g.150548269G>T NCBI36
NG_016190.1:g.21035C>A , LRG_1028:g.21035C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.5717C>A MANE Select ENSP00000357789.1:p.Ser1906Ter
ENST00000368799.1:c.5717C>A ENSP00000357789.1:p.Ser1906Ter
NM_002016.1:c.5717C>A , LRG_1028t1:c.5717C>A NP_002007.1:p.Ser1906Ter
XM_011509329.1:c.5717C>A XP_011507631.1:p.Ser1906Ter
NM_002016.2:c.5717C>A MANE Select NP_002007.1:p.Ser1906Ter
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