Canonical Allele Identifier: CA342048283
Gene: FLG HGNC NCBI

Linked Data

dbSNP Id: rs758617624
gnomAD v2: 1-152280177-G-T
gnomAD v4: 1-152307701-G-T
MyVariant Identifiers: chr1:g.152280177G>T (hg19) chr1:g.152307701G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152307701G>T , CM000663.2:g.152307701G>T GRCh38
NC_000001.10:g.152280177G>T , CM000663.1:g.152280177G>T GRCh37
NC_000001.9:g.150546801G>T NCBI36
NG_016190.1:g.22503C>A , LRG_1028:g.22503C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.7185C>A MANE Select ENSP00000357789.1:p.Ser2395Arg
ENST00000368799.1:c.7185C>A ENSP00000357789.1:p.Ser2395Arg
NM_002016.1:c.7185C>A , LRG_1028t1:c.7185C>A NP_002007.1:p.Ser2395Arg
XM_011509329.1:c.7185C>A XP_011507631.1:p.Ser2395Arg
NM_002016.2:c.7185C>A MANE Select NP_002007.1:p.Ser2395Arg
Search 100 bp 5'
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