Canonical Allele Identifier: CA1106553
Gene: FLG HGNC NCBI

Linked Data

dbSNP Id: rs775682027
ExAC: 1:152283665 A / C
gnomAD v2: 1-152283665-A-C
gnomAD v3: 1-152311189-A-C
gnomAD v4: 1-152311189-A-C
MyVariant Identifiers: chr1:g.152283665A>C (hg19) chr1:g.152311189A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152311189A>C , CM000663.2:g.152311189A>C GRCh38
NC_000001.10:g.152283665A>C , CM000663.1:g.152283665A>C GRCh37
NC_000001.9:g.150550289A>C NCBI36
NG_016190.1:g.19015T>G , LRG_1028:g.19015T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.3697T>G MANE Select ENSP00000357789.1:p.Ser1233Ala
ENST00000368799.1:c.3697T>G ENSP00000357789.1:p.Ser1233Ala
NM_002016.1:c.3697T>G , LRG_1028t1:c.3697T>G NP_002007.1:p.Ser1233Ala
XM_011509329.1:c.3697T>G XP_011507631.1:p.Ser1233Ala
NM_002016.2:c.3697T>G MANE Select NP_002007.1:p.Ser1233Ala
Search 100 bp 5'
Search 100 bp 3'