Canonical Allele Identifier: CA342074825
Gene: FLG HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152304993G>A , CM000663.2:g.152304993G>A GRCh38
NC_000001.10:g.152277469G>A , CM000663.1:g.152277469G>A GRCh37
NC_000001.9:g.150544093G>A NCBI36
NG_016190.1:g.25211C>T , LRG_1028:g.25211C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.9893C>T MANE Select ENSP00000357789.1:p.Pro3298Leu
ENST00000368799.1:c.9893C>T ENSP00000357789.1:p.Pro3298Leu
NM_002016.1:c.9893C>T , LRG_1028t1:c.9893C>T NP_002007.1:p.Pro3298Leu
XM_011509329.1:c.9108+785C>T XP_011507631.1:n.9108+785C>T
NM_002016.2:c.9893C>T MANE Select NP_002007.1:p.Pro3298Leu