Canonical Allele Identifier: CA1103659
Gene: FLG HGNC NCBI

Linked Data

dbSNP Id: rs768072329
ExAC: 1:152277535 G / C
gnomAD v2: 1-152277535-G-C
gnomAD v3: 1-152305059-G-C
gnomAD v4: 1-152305059-G-C
MyVariant Identifiers: chr1:g.152277535G>C (hg19) chr1:g.152305059G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152305059G>C , CM000663.2:g.152305059G>C GRCh38
NC_000001.10:g.152277535G>C , CM000663.1:g.152277535G>C GRCh37
NC_000001.9:g.150544159G>C NCBI36
NG_016190.1:g.25145C>G , LRG_1028:g.25145C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.9827C>G MANE Select ENSP00000357789.1:p.Thr3276Ser
ENST00000368799.1:c.9827C>G ENSP00000357789.1:p.Thr3276Ser
NM_002016.1:c.9827C>G , LRG_1028t1:c.9827C>G NP_002007.1:p.Thr3276Ser
XM_011509329.1:c.9108+719C>G XP_011507631.1:n.9108+719C>G
NM_002016.2:c.9827C>G MANE Select NP_002007.1:p.Thr3276Ser
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