Canonical Allele Identifier: CA1104837
Gene: FLG HGNC NCBI

Linked Data

dbSNP Id: rs753265682
ExAC: 1:152280129 T / G
gnomAD v2: 1-152280129-T-G
gnomAD v3: 1-152307653-T-G
gnomAD v4: 1-152307653-T-G
MyVariant Identifiers: chr1:g.152280129T>G (hg19) chr1:g.152307653T>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152307653T>G , CM000663.2:g.152307653T>G GRCh38
NC_000001.10:g.152280129T>G , CM000663.1:g.152280129T>G GRCh37
NC_000001.9:g.150546753T>G NCBI36
NG_016190.1:g.22551A>C , LRG_1028:g.22551A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.7233A>C MANE Select ENSP00000357789.1:p.Ser2411=
ENST00000368799.1:c.7233A>C ENSP00000357789.1:p.Ser2411=
NM_002016.1:c.7233A>C , LRG_1028t1:c.7233A>C NP_002007.1:p.Ser2411=
XM_011509329.1:c.7233A>C XP_011507631.1:p.Ser2411=
NM_002016.2:c.7233A>C MANE Select NP_002007.1:p.Ser2411=
Search 100 bp 5'
Search 100 bp 3'