Canonical Allele Identifier: CA1102748
Gene: FLG HGNC NCBI
ClinVar RCV:
RCV001609895
ClinVar Variation:
1231239
dbSNP:
3814299
gnomAD v2:
1:152275453 G / A
gnomAD v3:
1:152302977 G / A
gnomAD v4:
chr1-152302977-G-A
Joint Max Group AF 0.10261432 (AMR)
Genomes Max Group AF 0.08381286 (AMR)
Exomes Max Group AF 0.10803723 (AMR)
MyVariant.info:
GRCh38 chr1:g.152302977G>A
GRCh37 chr1:g.152275453G>A
Revel Score:
ENST00000368799 (MANE Select) 0.068
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152302977G>A , CM000663.2:g.152302977G>A GRCh38
NC_000001.10:g.152275453G>A , CM000663.1:g.152275453G>A GRCh37
NC_000001.9:g.150542077G>A NCBI36
NG_016190.1:g.27227C>T , LRG_1028:g.27227C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.11909C>T MANE Select ENSP00000357789.1:p.Ser3970Leu
ENST00000368799.1:c.11909C>T ENSP00000357789.1:p.Ser3970Leu
NM_002016.1:c.11909C>T , LRG_1028t1:c.11909C>T NP_002007.1:p.Ser3970Leu
XM_011509329.1:c.9965C>T XP_011507631.1:p.Ser3322Leu
NM_002016.2:c.11909C>T MANE Select NP_002007.1:p.Ser3970Leu
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