Canonical Allele Identifier: CA342060867
Gene: FLG HGNC NCBI

Linked Data

COSMIC: COSM320446
MyVariant Identifiers: chr1:g.152281552G>T (hg19) chr1:g.152309076G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152309076G>T , CM000663.2:g.152309076G>T GRCh38
NC_000001.10:g.152281552G>T , CM000663.1:g.152281552G>T GRCh37
NC_000001.9:g.150548176G>T NCBI36
NG_016190.1:g.21128C>A , LRG_1028:g.21128C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.5810C>A MANE Select ENSP00000357789.1:p.Ser1937Tyr
ENST00000368799.1:c.5810C>A ENSP00000357789.1:p.Ser1937Tyr
NM_002016.1:c.5810C>A , LRG_1028t1:c.5810C>A NP_002007.1:p.Ser1937Tyr
XM_011509329.1:c.5810C>A XP_011507631.1:p.Ser1937Tyr
NM_002016.2:c.5810C>A MANE Select NP_002007.1:p.Ser1937Tyr
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