Canonical Allele Identifier: CA1104779
Gene: FLG HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.152307547G>C
GRCh37 chr1:g.152280023G>C
Revel Score:
ENST00000368799 (MANE Select) 0.049
gnomAD v2:
1:152280023 G / C
gnomAD v4:
chr1-152307547-G-C
Joint Max Group AF 0.0000074 (EAS)
Exomes Max Group AF 0.00000835 (EAS)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152307547G>C , CM000663.2:g.152307547G>C GRCh38
NC_000001.10:g.152280023G>C , CM000663.1:g.152280023G>C GRCh37
NC_000001.9:g.150546647G>C NCBI36
NG_016190.1:g.22657C>G , LRG_1028:g.22657C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.7339C>G MANE Select ENSP00000357789.1:p.Arg2447Gly
ENST00000368799.1:c.7339C>G ENSP00000357789.1:p.Arg2447Gly
NM_002016.1:c.7339C>G , LRG_1028t1:c.7339C>G NP_002007.1:p.Arg2447Gly
XM_011509329.1:c.7339C>G XP_011507631.1:p.Arg2447Gly
NM_002016.2:c.7339C>G MANE Select NP_002007.1:p.Arg2447Gly
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