Canonical Allele Identifier: CA1107450

Gene: FLG

Linked Data

• ClinVar Variation Id: 373024
• ClinVar RCV Id: RCV000412715
• dbSNP Id: rs145119819
• ExAC: 1:152285536 G / T
• gnomAD v2: 1-152285536-G-T
• gnomAD v3: 1-152313060-G-T
• gnomAD v4: 1-152313060-G-T
• COSMIC: COSM1472655
• MyVariant Identifiers: chr1:g.152285536G>T (hg19) ; chr1:g.152313060G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.152313060G>T , CM000663.2:g.152313060G>T	GRCh38
NC_000001.10:g.152285536G>T , CM000663.1:g.152285536G>T	GRCh37
NC_000001.9:g.150552160G>T	NCBI36
NG_016190.1:g.17144C>A , LRG_1028:g.17144C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000368799.2:c.1826C>A MANE Select	ENSP00000357789.1:p.Ser609Ter
ENST00000368799.1:c.1826C>A	ENSP00000357789.1:p.Ser609Ter
NM_002016.1:c.1826C>A , LRG_1028t1:c.1826C>A	NP_002007.1:p.Ser609Ter
XM_011509329.1:c.1826C>A	XP_011507631.1:p.Ser609Ter
NM_002016.2:c.1826C>A MANE Select	NP_002007.1:p.Ser609Ter