Canonical Allele Identifier: CA342080224
Gene: FLG HGNC NCBI

Linked Data

dbSNP Id: rs115324644
gnomAD v2: 1-152283426-A-C
gnomAD v4: 1-152310950-A-C
MyVariant Identifiers: chr1:g.152283426A>C (hg19) chr1:g.152310950A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152310950A>C , CM000663.2:g.152310950A>C GRCh38
NC_000001.10:g.152283426A>C , CM000663.1:g.152283426A>C GRCh37
NC_000001.9:g.150550050A>C NCBI36
NG_016190.1:g.19254T>G , LRG_1028:g.19254T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000368799.2:c.3936T>G MANE Select ENSP00000357789.1:p.His1312Gln
ENST00000368799.1:c.3936T>G ENSP00000357789.1:p.His1312Gln
NM_002016.1:c.3936T>G , LRG_1028t1:c.3936T>G NP_002007.1:p.His1312Gln
XM_011509329.1:c.3936T>G XP_011507631.1:p.His1312Gln
NM_002016.2:c.3936T>G MANE Select NP_002007.1:p.His1312Gln
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