Canonical Allele Identifier: CA1106524

Gene: FLG

Linked Data

• dbSNP Id: rs182236814
• ExAC: 1:152283597 T / C
• gnomAD v2: 1-152283597-T-C
• gnomAD v3: 1-152311121-T-C
• gnomAD v4: 1-152311121-T-C
• MyVariant Identifiers: chr1:g.152283597T>C (hg19) ; chr1:g.152311121T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.152311121T>C , CM000663.2:g.152311121T>C	GRCh38
NC_000001.10:g.152283597T>C , CM000663.1:g.152283597T>C	GRCh37
NC_000001.9:g.150550221T>C	NCBI36
NG_016190.1:g.19083A>G , LRG_1028:g.19083A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368799.2:c.3765A>G MANE Select	ENSP00000357789.1:p.Glu1255=
ENST00000368799.1:c.3765A>G	ENSP00000357789.1:p.Glu1255=
NM_002016.1:c.3765A>G , LRG_1028t1:c.3765A>G	NP_002007.1:p.Glu1255=
XM_011509329.1:c.3765A>G	XP_011507631.1:p.Glu1255=
NM_002016.2:c.3765A>G MANE Select	NP_002007.1:p.Glu1255=