Canonical Allele Identifier: CA342078692
Gene: FLG HGNC NCBI

Linked Data

dbSNP Id: rs1260002154
gnomAD v2: 1-152283262-C-T
gnomAD v4: 1-152310786-C-T
MyVariant Identifiers: chr1:g.152283262C>T (hg19) chr1:g.152310786C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152310786C>T , CM000663.2:g.152310786C>T GRCh38
NC_000001.10:g.152283262C>T , CM000663.1:g.152283262C>T GRCh37
NC_000001.9:g.150549886C>T NCBI36
NG_016190.1:g.19418G>A , LRG_1028:g.19418G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.4100G>A MANE Select ENSP00000357789.1:p.Ser1367Asn
ENST00000368799.1:c.4100G>A ENSP00000357789.1:p.Ser1367Asn
NM_002016.1:c.4100G>A , LRG_1028t1:c.4100G>A NP_002007.1:p.Ser1367Asn
XM_011509329.1:c.4100G>A XP_011507631.1:p.Ser1367Asn
NM_002016.2:c.4100G>A MANE Select NP_002007.1:p.Ser1367Asn
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