Canonical Allele Identifier: CA1105506
Gene: FLG HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.152308956G>A
GRCh37 chr1:g.152281432G>A
Revel Score:
ENST00000368799 (MANE Select) 0.073
gnomAD v2:
1:152281432 G / A
gnomAD v3:
1:152308956 G / A
gnomAD v4:
chr1-152308956-G-A
Joint Max Group AF 0.00026482 (SAS)
Genomes Max Group AF 0.00000488 (NFE)
Exomes Max Group AF 0.00026967 (SAS)
JSON-LD

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.5930C>T MANE Select ENSP00000357789.1:p.Ser1977Leu
ENST00000368799.1:c.5930C>T ENSP00000357789.1:p.Ser1977Leu
NM_002016.1:c.5930C>T , LRG_1028t1:c.5930C>T NP_002007.1:p.Ser1977Leu
XM_011509329.1:c.5930C>T XP_011507631.1:p.Ser1977Leu
NM_002016.2:c.5930C>T MANE Select NP_002007.1:p.Ser1977Leu
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