Canonical Allele Identifier: CA342075172
Gene: FLG HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152305039A>G , CM000663.2:g.152305039A>G GRCh38
NC_000001.10:g.152277515A>G , CM000663.1:g.152277515A>G GRCh37
NC_000001.9:g.150544139A>G NCBI36
NG_016190.1:g.25165T>C , LRG_1028:g.25165T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.9847T>C MANE Select ENSP00000357789.1:p.Ser3283Pro
ENST00000368799.1:c.9847T>C ENSP00000357789.1:p.Ser3283Pro
NM_002016.1:c.9847T>C , LRG_1028t1:c.9847T>C NP_002007.1:p.Ser3283Pro
XM_011509329.1:c.9108+739T>C XP_011507631.1:n.9108+739T>C
NM_002016.2:c.9847T>C MANE Select NP_002007.1:p.Ser3283Pro