Canonical Allele Identifier: CA1106057
Gene: FLG HGNC NCBI

Linked Data

dbSNP Id: rs533784172
ExAC: 1:152282573 C / G
gnomAD v2: 1-152282573-C-G
gnomAD v3: 1-152310097-C-G
gnomAD v4: 1-152310097-C-G
MyVariant Identifiers: chr1:g.152282573C>G (hg19) chr1:g.152282573_152282577delinsGCTGA (hg19) chr1:g.152310097C>G (hg38) chr1:g.152310097_152310101delinsGCTGA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152310097C>G , CM000663.2:g.152310097C>G GRCh38
NC_000001.10:g.152282573C>G , CM000663.1:g.152282573C>G GRCh37
NC_000001.9:g.150549197C>G NCBI36
NG_016190.1:g.20107G>C , LRG_1028:g.20107G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.4789G>C MANE Select ENSP00000357789.1:p.Asp1597His
ENST00000368799.1:c.4789G>C ENSP00000357789.1:p.Asp1597His
NM_002016.1:c.4789G>C , LRG_1028t1:c.4789G>C NP_002007.1:p.Asp1597His
XM_011509329.1:c.4789G>C XP_011507631.1:p.Asp1597His
NM_002016.2:c.4789G>C MANE Select NP_002007.1:p.Asp1597His
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