Canonical Allele Identifier: CA342072908
Gene: FLG HGNC NCBI

Linked Data

dbSNP Id: rs1651833033
gnomAD v4: 1-152304748-A-T
MyVariant Identifiers: chr1:g.152277224A>T (hg19) chr1:g.152304748A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152304748A>T , CM000663.2:g.152304748A>T GRCh38
NC_000001.10:g.152277224A>T , CM000663.1:g.152277224A>T GRCh37
NC_000001.9:g.150543848A>T NCBI36
NG_016190.1:g.25456T>A , LRG_1028:g.25456T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000368799.2:c.10138T>A MANE Select ENSP00000357789.1:p.Ser3380Thr
ENST00000368799.1:c.10138T>A ENSP00000357789.1:p.Ser3380Thr
NM_002016.1:c.10138T>A , LRG_1028t1:c.10138T>A NP_002007.1:p.Ser3380Thr
XM_011509329.1:c.9109-915T>A XP_011507631.1:n.9109-915T>A
NM_002016.2:c.10138T>A MANE Select NP_002007.1:p.Ser3380Thr
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