Canonical Allele Identifier: CA1105619

Gene: FLG

Linked Data

• ClinVar Variation Id: 2377591
• ClinVar RCV Id: RCV002670603
• dbSNP Id: rs751835907
• ExAC: 1:152281630 C / T
• gnomAD v2: 1-152281630-C-T
• gnomAD v3: 1-152309154-C-T
• gnomAD v4: 1-152309154-C-T
• MyVariant Identifiers: chr1:g.152281630C>T (hg19) ; chr1:g.152309154C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.152309154C>T , CM000663.2:g.152309154C>T	GRCh38
NC_000001.10:g.152281630C>T , CM000663.1:g.152281630C>T	GRCh37
NC_000001.9:g.150548254C>T	NCBI36
NG_016190.1:g.21050G>A , LRG_1028:g.21050G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368799.2:c.5732G>A MANE Select	ENSP00000357789.1:p.Ser1911Asn
ENST00000368799.1:c.5732G>A	ENSP00000357789.1:p.Ser1911Asn
NM_002016.1:c.5732G>A , LRG_1028t1:c.5732G>A	NP_002007.1:p.Ser1911Asn
XM_011509329.1:c.5732G>A	XP_011507631.1:p.Ser1911Asn
NM_002016.2:c.5732G>A MANE Select	NP_002007.1:p.Ser1911Asn