Canonical Allele Identifier: CA1106527

Gene: FLG

Linked Data

• dbSNP Id: rs756704014
• ExAC: 1:152283603 T / G
• gnomAD v2: 1-152283603-T-G
• gnomAD v3: 1-152311127-T-G
• gnomAD v4: 1-152311127-T-G
• MyVariant Identifiers: chr1:g.152283603T>G (hg19) ; chr1:g.152311127T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.152311127T>G , CM000663.2:g.152311127T>G	GRCh38
NC_000001.10:g.152283603T>G , CM000663.1:g.152283603T>G	GRCh37
NC_000001.9:g.150550227T>G	NCBI36
NG_016190.1:g.19077A>C , LRG_1028:g.19077A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368799.2:c.3759A>C MANE Select	ENSP00000357789.1:p.Gly1253=
ENST00000368799.1:c.3759A>C	ENSP00000357789.1:p.Gly1253=
NM_002016.1:c.3759A>C , LRG_1028t1:c.3759A>C	NP_002007.1:p.Gly1253=
XM_011509329.1:c.3759A>C	XP_011507631.1:p.Gly1253=
NM_002016.2:c.3759A>C MANE Select	NP_002007.1:p.Gly1253=