Canonical Allele Identifier: CA342049209
Gene: FLG HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.152280221G>T (hg19) chr1:g.152307745G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152307745G>T , CM000663.2:g.152307745G>T GRCh38
NC_000001.10:g.152280221G>T , CM000663.1:g.152280221G>T GRCh37
NC_000001.9:g.150546845G>T NCBI36
NG_016190.1:g.22459C>A , LRG_1028:g.22459C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.7141C>A MANE Select ENSP00000357789.1:p.Gln2381Lys
ENST00000368799.1:c.7141C>A ENSP00000357789.1:p.Gln2381Lys
NM_002016.1:c.7141C>A , LRG_1028t1:c.7141C>A NP_002007.1:p.Gln2381Lys
XM_011509329.1:c.7141C>A XP_011507631.1:p.Gln2381Lys
NM_002016.2:c.7141C>A MANE Select NP_002007.1:p.Gln2381Lys
Search 100 bp 5'
Search 100 bp 3'