Canonical Allele Identifier: CA1105412
Gene: FLG HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.152308777G>A
GRCh37 chr1:g.152281253G>A
gnomAD v2:
1:152281253 G / A
gnomAD v3:
1:152308777 G / A
gnomAD v4:
chr1-152308777-G-A
Joint Max Group AF 0.00098356 (SAS)
Genomes Max Group AF 0.00068187 (SAS)
Exomes Max Group AF 0.00096438 (SAS)
ClinVar RCV:
RCV000261767
RCV002248503
ClinVar Variation:
280166
dbSNP:
200002200
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152308777G>A , CM000663.2:g.152308777G>A GRCh38
NC_000001.10:g.152281253G>A , CM000663.1:g.152281253G>A GRCh37
NC_000001.9:g.150547877G>A NCBI36
NG_016190.1:g.21427C>T , LRG_1028:g.21427C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.6109C>T MANE Select ENSP00000357789.1:p.Arg2037Ter
ENST00000368799.1:c.6109C>T ENSP00000357789.1:p.Arg2037Ter
NM_002016.1:c.6109C>T , LRG_1028t1:c.6109C>T NP_002007.1:p.Arg2037Ter
XM_011509329.1:c.6109C>T XP_011507631.1:p.Arg2037Ter
NM_002016.2:c.6109C>T MANE Select NP_002007.1:p.Arg2037Ter
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