Canonical Allele Identifier: CA1104778

Gene: FLG

Linked Data

• ClinVar Variation Id: 50932
• ClinVar RCV Id: RCV000255655 ; RCV000991155 ; RCV000763245 ; RCV001253562 ; RCV004549477
• dbSNP Id: rs138726443
• ExAC: 1:152280023 G / A
• gnomAD v2: 1-152280023-G-A
• gnomAD v3: 1-152307547-G-A
• gnomAD v4: 1-152307547-G-A
• MyVariant Identifiers: chr1:g.152280023G>A (hg19) ; chr1:g.152307547G>A (hg38)
• PubMed: PMID:17417636

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.152307547G>A , CM000663.2:g.152307547G>A	GRCh38
NC_000001.10:g.152280023G>A , CM000663.1:g.152280023G>A	GRCh37
NC_000001.9:g.150546647G>A	NCBI36
NG_016190.1:g.22657C>T , LRG_1028:g.22657C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368799.2:c.7339C>T MANE Select	ENSP00000357789.1:p.Arg2447Ter
ENST00000368799.1:c.7339C>T	ENSP00000357789.1:p.Arg2447Ter
NM_002016.1:c.7339C>T , LRG_1028t1:c.7339C>T	NP_002007.1:p.Arg2447Ter
XM_011509329.1:c.7339C>T	XP_011507631.1:p.Arg2447Ter
NM_002016.2:c.7339C>T MANE Select	NP_002007.1:p.Arg2447Ter