Canonical Allele Identifier: CA1106248
Gene: FLG HGNC NCBI

Linked Data

dbSNP Id: rs762458364
ExAC: 1:152282981 T / G
gnomAD v2: 1-152282981-T-G
gnomAD v3: 1-152310505-T-G
gnomAD v4: 1-152310505-T-G
MyVariant Identifiers: chr1:g.152282981T>G (hg19) chr1:g.152310505T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152310505T>G , CM000663.2:g.152310505T>G GRCh38
NC_000001.10:g.152282981T>G , CM000663.1:g.152282981T>G GRCh37
NC_000001.9:g.150549605T>G NCBI36
NG_016190.1:g.19699A>C , LRG_1028:g.19699A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.4381A>C MANE Select ENSP00000357789.1:p.Ser1461Arg
ENST00000368799.1:c.4381A>C ENSP00000357789.1:p.Ser1461Arg
NM_002016.1:c.4381A>C , LRG_1028t1:c.4381A>C NP_002007.1:p.Ser1461Arg
XM_011509329.1:c.4381A>C XP_011507631.1:p.Ser1461Arg
NM_002016.2:c.4381A>C MANE Select NP_002007.1:p.Ser1461Arg
Search 100 bp 5'
Search 100 bp 3'