Canonical Allele Identifier: CA342061325

Gene: FLG

Linked Data

• dbSNP Id: rs755966032
• gnomAD v2: 1-152281601-C-G
• gnomAD v4: 1-152309125-C-G
• MyVariant Identifiers: chr1:g.152281601C>G (hg19) ; chr1:g.152281601_152281605delinsGCTGG (hg19) ; chr1:g.152309125C>G (hg38) ; chr1:g.152309125_152309129delinsGCTGG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.152309125C>G , CM000663.2:g.152309125C>G	GRCh38
NC_000001.10:g.152281601C>G , CM000663.1:g.152281601C>G	GRCh37
NC_000001.9:g.150548225C>G	NCBI36
NG_016190.1:g.21079G>C , LRG_1028:g.21079G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368799.2:c.5761G>C MANE Select	ENSP00000357789.1:p.Asp1921His
ENST00000368799.1:c.5761G>C	ENSP00000357789.1:p.Asp1921His
NM_002016.1:c.5761G>C , LRG_1028t1:c.5761G>C	NP_002007.1:p.Asp1921His
XM_011509329.1:c.5761G>C	XP_011507631.1:p.Asp1921His
NM_002016.2:c.5761G>C MANE Select	NP_002007.1:p.Asp1921His