Canonical Allele Identifier: CA342104382
Gene: FLG HGNC NCBI

Linked Data

dbSNP Id: rs1377061033
gnomAD v2: 1-152286464-C-T
gnomAD v4: 1-152313988-C-T
MyVariant Identifiers: chr1:g.152286464C>T (hg19) chr1:g.152313988C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152313988C>T , CM000663.2:g.152313988C>T GRCh38
NC_000001.10:g.152286464C>T , CM000663.1:g.152286464C>T GRCh37
NC_000001.9:g.150553088C>T NCBI36
NG_016190.1:g.16216G>A , LRG_1028:g.16216G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000368799.2:c.898G>A MANE Select ENSP00000357789.1:p.Asp300Asn
ENST00000368799.1:c.898G>A ENSP00000357789.1:p.Asp300Asn
NM_002016.1:c.898G>A , LRG_1028t1:c.898G>A NP_002007.1:p.Asp300Asn
NR_103778.1:n.530C>T
XM_011509329.1:c.898G>A XP_011507631.1:p.Asp300Asn
NM_002016.2:c.898G>A MANE Select NP_002007.1:p.Asp300Asn
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