Canonical Allele Identifier: CA1102813
Gene: FLG HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.152303164C>T
GRCh37 chr1:g.152275640C>T
Revel Score:
ENST00000368799 (MANE Select) 0.056
gnomAD v2:
1:152275640 C / T
gnomAD v3:
1:152303164 C / T
gnomAD v4:
chr1-152303164-C-T
Joint Max Group AF 0.02935733 (EAS)
Genomes Max Group AF 0.03533621 (EAS)
Exomes Max Group AF 0.02811651 (EAS)
dbSNP:
3814300
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152303164C>T , CM000663.2:g.152303164C>T GRCh38
NC_000001.10:g.152275640C>T , CM000663.1:g.152275640C>T GRCh37
NC_000001.9:g.150542264C>T NCBI36
NG_016190.1:g.27040G>A , LRG_1028:g.27040G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.11722G>A MANE Select ENSP00000357789.1:p.Asp3908Asn
ENST00000368799.1:c.11722G>A ENSP00000357789.1:p.Asp3908Asn
NM_002016.1:c.11722G>A , LRG_1028t1:c.11722G>A NP_002007.1:p.Asp3908Asn
XM_011509329.1:c.9778G>A XP_011507631.1:p.Asp3260Asn
NM_002016.2:c.11722G>A MANE Select NP_002007.1:p.Asp3908Asn
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