Canonical Allele Identifier: CA1103632
Gene: FLG HGNC NCBI

Linked Data

dbSNP Id: rs768442879
ExAC: 1:152277471 A / G
gnomAD v2: 1-152277471-A-G
gnomAD v4: 1-152304995-A-G
MyVariant Identifiers: chr1:g.152277471A>G (hg19) chr1:g.152277471_152277472delinsGC (hg19) chr1:g.152304995A>G (hg38) chr1:g.152304995_152304996delinsGC (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152304995A>G , CM000663.2:g.152304995A>G GRCh38
NC_000001.10:g.152277471A>G , CM000663.1:g.152277471A>G GRCh37
NC_000001.9:g.150544095A>G NCBI36
NG_016190.1:g.25209T>C , LRG_1028:g.25209T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.9891T>C MANE Select ENSP00000357789.1:p.Ser3297=
ENST00000368799.1:c.9891T>C ENSP00000357789.1:p.Ser3297=
NM_002016.1:c.9891T>C , LRG_1028t1:c.9891T>C NP_002007.1:p.Ser3297=
XM_011509329.1:c.9108+783T>C XP_011507631.1:n.9108+783T>C
NM_002016.2:c.9891T>C MANE Select NP_002007.1:p.Ser3297=
Search 100 bp 5'
Search 100 bp 3'