Canonical Allele Identifier: CA1105441
Gene: FLG HGNC NCBI

Linked Data

dbSNP Id: rs7512857
ExAC: 1:152281304 A / T
gnomAD v2: 1-152281304-A-T
gnomAD v3: 1-152308828-A-T
gnomAD v4: 1-152308828-A-T
MyVariant Identifiers: chr1:g.152281304A>T (hg19) chr1:g.152308828A>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152308828A>T , CM000663.2:g.152308828A>T GRCh38
NC_000001.10:g.152281304A>T , CM000663.1:g.152281304A>T GRCh37
NC_000001.9:g.150547928A>T NCBI36
NG_016190.1:g.21376T>A , LRG_1028:g.21376T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.6058T>A MANE Select ENSP00000357789.1:p.Ser2020Thr
ENST00000368799.1:c.6058T>A ENSP00000357789.1:p.Ser2020Thr
NM_002016.1:c.6058T>A , LRG_1028t1:c.6058T>A NP_002007.1:p.Ser2020Thr
XM_011509329.1:c.6058T>A XP_011507631.1:p.Ser2020Thr
NM_002016.2:c.6058T>A MANE Select NP_002007.1:p.Ser2020Thr
Search 100 bp 5'
Search 100 bp 3'