Canonical Allele Identifier: CA342047812
Gene: FLG HGNC NCBI

Linked Data

dbSNP Id: rs1218957616

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152307642A>T , CM000663.2:g.152307642A>T GRCh38
NC_000001.10:g.152280118A>T , CM000663.1:g.152280118A>T GRCh37
NC_000001.9:g.150546742A>T NCBI36
NG_016190.1:g.22562T>A , LRG_1028:g.22562T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.7244T>A MANE Select ENSP00000357789.1:p.Leu2415His
ENST00000368799.1:c.7244T>A ENSP00000357789.1:p.Leu2415His
NM_002016.1:c.7244T>A , LRG_1028t1:c.7244T>A NP_002007.1:p.Leu2415His
XM_011509329.1:c.7244T>A XP_011507631.1:p.Leu2415His
NM_002016.2:c.7244T>A MANE Select NP_002007.1:p.Leu2415His