Canonical Allele Identifier: CA1106407

Gene: FLG

Linked Data

• dbSNP Id: rs764874345
• ExAC: 1:152283359 C / T
• gnomAD v2: 1-152283359-C-T
• MyVariant Identifiers: chr1:g.152283359C>T (hg19) ; chr1:g.152283359_152283361delinsTTG (hg19) ; chr1:g.152310883C>T (hg38) ; chr1:g.152310883_152310885delinsTTG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.152310883C>T , CM000663.2:g.152310883C>T	GRCh38
NC_000001.10:g.152283359C>T , CM000663.1:g.152283359C>T	GRCh37
NC_000001.9:g.150549983C>T	NCBI36
NG_016190.1:g.19321G>A , LRG_1028:g.19321G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368799.2:c.4003G>A MANE Select	ENSP00000357789.1:p.Glu1335Lys
ENST00000368799.1:c.4003G>A	ENSP00000357789.1:p.Glu1335Lys
NM_002016.1:c.4003G>A , LRG_1028t1:c.4003G>A	NP_002007.1:p.Glu1335Lys
XM_011509329.1:c.4003G>A	XP_011507631.1:p.Glu1335Lys
NM_002016.2:c.4003G>A MANE Select	NP_002007.1:p.Glu1335Lys