Canonical Allele Identifier: CA1102904

Gene: FLG

Linked Data

• ClinVar Variation Id: 280571
• ClinVar RCV Id: RCV003333057
• dbSNP Id: rs148606936
• ExAC: 1:152275910 G / A
• gnomAD v2: 1-152275910-G-A
• gnomAD v3: 1-152303434-G-A
• gnomAD v4: 1-152303434-G-A
• MyVariant Identifiers: chr1:g.152275910G>A (hg19) ; chr1:g.152303434G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.152303434G>A , CM000663.2:g.152303434G>A	GRCh38
NC_000001.10:g.152275910G>A , CM000663.1:g.152275910G>A	GRCh37
NC_000001.9:g.150542534G>A	NCBI36
NG_016190.1:g.26770C>T , LRG_1028:g.26770C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000368799.2:c.11452C>T MANE Select	ENSP00000357789.1:p.Gln3818Ter
ENST00000368799.1:c.11452C>T	ENSP00000357789.1:p.Gln3818Ter
NM_002016.1:c.11452C>T , LRG_1028t1:c.11452C>T	NP_002007.1:p.Gln3818Ter
XM_011509329.1:c.9508C>T	XP_011507631.1:p.Gln3170Ter
NM_002016.2:c.11452C>T MANE Select	NP_002007.1:p.Gln3818Ter