Canonical Allele Identifier: CA342078842
Gene: FLG HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.152283278G>T (hg19) chr1:g.152310802G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152310802G>T , CM000663.2:g.152310802G>T GRCh38
NC_000001.10:g.152283278G>T , CM000663.1:g.152283278G>T GRCh37
NC_000001.9:g.150549902G>T NCBI36
NG_016190.1:g.19402C>A , LRG_1028:g.19402C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000368799.2:c.4084C>A MANE Select ENSP00000357789.1:p.Gln1362Lys
ENST00000368799.1:c.4084C>A ENSP00000357789.1:p.Gln1362Lys
NM_002016.1:c.4084C>A , LRG_1028t1:c.4084C>A NP_002007.1:p.Gln1362Lys
XM_011509329.1:c.4084C>A XP_011507631.1:p.Gln1362Lys
NM_002016.2:c.4084C>A MANE Select NP_002007.1:p.Gln1362Lys
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