Canonical Allele Identifier: CA1103475

Gene: FLG

Linked Data

• dbSNP Id: rs773011736
• ExAC: 1:152277154 G / T
• gnomAD v2: 1-152277154-G-T
• gnomAD v3: 1-152304678-G-T
• gnomAD v4: 1-152304678-G-T
• MyVariant Identifiers: chr1:g.152277154G>T (hg19) ; chr1:g.152304678G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.152304678G>T , CM000663.2:g.152304678G>T	GRCh38
NC_000001.10:g.152277154G>T , CM000663.1:g.152277154G>T	GRCh37
NC_000001.9:g.150543778G>T	NCBI36
NG_016190.1:g.25526C>A , LRG_1028:g.25526C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368799.2:c.10208C>A MANE Select	ENSP00000357789.1:p.Thr3403Asn
ENST00000368799.1:c.10208C>A	ENSP00000357789.1:p.Thr3403Asn
NM_002016.1:c.10208C>A , LRG_1028t1:c.10208C>A	NP_002007.1:p.Thr3403Asn
XM_011509329.1:c.9109-845C>A	XP_011507631.1:n.9109-845C>A
NM_002016.2:c.10208C>A MANE Select	NP_002007.1:p.Thr3403Asn