Canonical Allele Identifier: CA342090593
Gene: FLG HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.152285049A>T (hg19) chr1:g.152312573A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152312573A>T , CM000663.2:g.152312573A>T GRCh38
NC_000001.10:g.152285049A>T , CM000663.1:g.152285049A>T GRCh37
NC_000001.9:g.150551673A>T NCBI36
NG_016190.1:g.17631T>A , LRG_1028:g.17631T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.2313T>A MANE Select ENSP00000357789.1:p.His771Gln
ENST00000368799.1:c.2313T>A ENSP00000357789.1:p.His771Gln
NM_002016.1:c.2313T>A , LRG_1028t1:c.2313T>A NP_002007.1:p.His771Gln
XM_011509329.1:c.2313T>A XP_011507631.1:p.His771Gln
NM_002016.2:c.2313T>A MANE Select NP_002007.1:p.His771Gln
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