Canonical Allele Identifier: CA342083421

Gene: FLG

Linked Data

• COSMIC: COSM2206688
• MyVariant Identifiers: chr1:g.152283934C>T (hg19) ; chr1:g.152311458C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.152311458C>T , CM000663.2:g.152311458C>T	GRCh38
NC_000001.10:g.152283934C>T , CM000663.1:g.152283934C>T	GRCh37
NC_000001.9:g.150550558C>T	NCBI36
NG_016190.1:g.18746G>A , LRG_1028:g.18746G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368799.2:c.3428G>A MANE Select	ENSP00000357789.1:p.Gly1143Glu
ENST00000368799.1:c.3428G>A	ENSP00000357789.1:p.Gly1143Glu
NM_002016.1:c.3428G>A , LRG_1028t1:c.3428G>A	NP_002007.1:p.Gly1143Glu
XM_011509329.1:c.3428G>A	XP_011507631.1:p.Gly1143Glu
NM_002016.2:c.3428G>A MANE Select	NP_002007.1:p.Gly1143Glu