Canonical Allele Identifier: CA1106232

Gene: FLG

Linked Data

• ClinVar Variation Id: 488829
• ClinVar RCV Id: RCV000578668 ; RCV003338670
• dbSNP Id: rs146686141
• ExAC: 1:152282942 G / A
• gnomAD v2: 1-152282942-G-A
• gnomAD v3: 1-152310466-G-A
• gnomAD v4: 1-152310466-G-A
• MyVariant Identifiers: chr1:g.152282942G>A (hg19) ; chr1:g.152310466G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.152310466G>A , CM000663.2:g.152310466G>A	GRCh38
NC_000001.10:g.152282942G>A , CM000663.1:g.152282942G>A	GRCh37
NC_000001.9:g.150549566G>A	NCBI36
NG_016190.1:g.19738C>T , LRG_1028:g.19738C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368799.2:c.4420C>T MANE Select	ENSP00000357789.1:p.Arg1474Ter
ENST00000368799.1:c.4420C>T	ENSP00000357789.1:p.Arg1474Ter
NM_002016.1:c.4420C>T , LRG_1028t1:c.4420C>T	NP_002007.1:p.Arg1474Ter
XM_011509329.1:c.4420C>T	XP_011507631.1:p.Arg1474Ter
NM_002016.2:c.4420C>T MANE Select	NP_002007.1:p.Arg1474Ter