Canonical Allele Identifier: CA342089290
Gene: FLG HGNC NCBI

Linked Data

gnomAD v4: 1-152312392-A-G
MyVariant Identifiers: chr1:g.152284868A>G (hg19) chr1:g.152312392A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152312392A>G , CM000663.2:g.152312392A>G GRCh38
NC_000001.10:g.152284868A>G , CM000663.1:g.152284868A>G GRCh37
NC_000001.9:g.150551492A>G NCBI36
NG_016190.1:g.17812T>C , LRG_1028:g.17812T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.2494T>C MANE Select ENSP00000357789.1:p.Ser832Pro
ENST00000368799.1:c.2494T>C ENSP00000357789.1:p.Ser832Pro
NM_002016.1:c.2494T>C , LRG_1028t1:c.2494T>C NP_002007.1:p.Ser832Pro
XM_011509329.1:c.2494T>C XP_011507631.1:p.Ser832Pro
NM_002016.2:c.2494T>C MANE Select NP_002007.1:p.Ser832Pro
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