Canonical Allele Identifier: CA1105507
Gene: FLG HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.152308956G>C
GRCh37 chr1:g.152281432G>C
gnomAD v2:
1:152281432 G / C
gnomAD v3:
1:152308956 G / C
gnomAD v4:
chr1-152308956-G-C
Joint Max Group AF 0.00000359 (NFE)
Genomes Max Group AF 0.00002846 (NFE)
Exomes Max Group AF 8.4e-7 (NFE)
ClinVar RCV:
RCV000486896
ClinVar Variation:
419221
dbSNP:
140980397
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152308956G>C , CM000663.2:g.152308956G>C GRCh38
NC_000001.10:g.152281432G>C , CM000663.1:g.152281432G>C GRCh37
NC_000001.9:g.150548056G>C NCBI36
NG_016190.1:g.21248C>G , LRG_1028:g.21248C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.5930C>G MANE Select ENSP00000357789.1:p.Ser1977Ter
ENST00000368799.1:c.5930C>G ENSP00000357789.1:p.Ser1977Ter
NM_002016.1:c.5930C>G , LRG_1028t1:c.5930C>G NP_002007.1:p.Ser1977Ter
XM_011509329.1:c.5930C>G XP_011507631.1:p.Ser1977Ter
NM_002016.2:c.5930C>G MANE Select NP_002007.1:p.Ser1977Ter
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