Canonical Allele Identifier: CA342062265
Gene: FLG HGNC NCBI

Linked Data

dbSNP Id: rs561302791
gnomAD v3: 1-152309224-C-T
gnomAD v4: 1-152309224-C-T
MyVariant Identifiers: chr1:g.152281700C>T (hg19) chr1:g.152309224C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152309224C>T , CM000663.2:g.152309224C>T GRCh38
NC_000001.10:g.152281700C>T , CM000663.1:g.152281700C>T GRCh37
NC_000001.9:g.150548324C>T NCBI36
NG_016190.1:g.20980G>A , LRG_1028:g.20980G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.5662G>A MANE Select ENSP00000357789.1:p.Ala1888Thr
ENST00000368799.1:c.5662G>A ENSP00000357789.1:p.Ala1888Thr
NM_002016.1:c.5662G>A , LRG_1028t1:c.5662G>A NP_002007.1:p.Ala1888Thr
XM_011509329.1:c.5662G>A XP_011507631.1:p.Ala1888Thr
NM_002016.2:c.5662G>A MANE Select NP_002007.1:p.Ala1888Thr
Search 100 bp 5'
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