Canonical Allele Identifier: CA342055289

Gene: FLG

Linked Data

• gnomAD v4: 1-152308672-G-C
• MyVariant Identifiers: chr1:g.152281148G>C (hg19) ; chr1:g.152308672G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.152308672G>C , CM000663.2:g.152308672G>C	GRCh38
NC_000001.10:g.152281148G>C , CM000663.1:g.152281148G>C	GRCh37
NC_000001.9:g.150547772G>C	NCBI36
NG_016190.1:g.21532C>G , LRG_1028:g.21532C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368799.2:c.6214C>G MANE Select	ENSP00000357789.1:p.His2072Asp
ENST00000368799.1:c.6214C>G	ENSP00000357789.1:p.His2072Asp
NM_002016.1:c.6214C>G , LRG_1028t1:c.6214C>G	NP_002007.1:p.His2072Asp
XM_011509329.1:c.6214C>G	XP_011507631.1:p.His2072Asp
NM_002016.2:c.6214C>G MANE Select	NP_002007.1:p.His2072Asp