Canonical Allele Identifier: CA342081321

Gene: FLG

Linked Data

• gnomAD v4: 1-152311144-T-C
• MyVariant Identifiers: chr1:g.152283620T>C (hg19) ; chr1:g.152311144T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.152311144T>C , CM000663.2:g.152311144T>C	GRCh38
NC_000001.10:g.152283620T>C , CM000663.1:g.152283620T>C	GRCh37
NC_000001.9:g.150550244T>C	NCBI36
NG_016190.1:g.19060A>G , LRG_1028:g.19060A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368799.2:c.3742A>G MANE Select	ENSP00000357789.1:p.Arg1248Gly
ENST00000368799.1:c.3742A>G	ENSP00000357789.1:p.Arg1248Gly
NM_002016.1:c.3742A>G , LRG_1028t1:c.3742A>G	NP_002007.1:p.Arg1248Gly
XM_011509329.1:c.3742A>G	XP_011507631.1:p.Arg1248Gly
NM_002016.2:c.3742A>G MANE Select	NP_002007.1:p.Arg1248Gly