Canonical Allele Identifier: CA1106491
Gene: FLG HGNC NCBI

Linked Data

dbSNP Id: rs763266331
ExAC: 1:152283521 C / T
gnomAD v2: 1-152283521-C-T
gnomAD v4: 1-152311045-C-T
MyVariant Identifiers: chr1:g.152283521C>T (hg19) chr1:g.152311045C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152311045C>T , CM000663.2:g.152311045C>T GRCh38
NC_000001.10:g.152283521C>T , CM000663.1:g.152283521C>T GRCh37
NC_000001.9:g.150550145C>T NCBI36
NG_016190.1:g.19159G>A , LRG_1028:g.19159G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.3841G>A MANE Select ENSP00000357789.1:p.Asp1281Asn
ENST00000368799.1:c.3841G>A ENSP00000357789.1:p.Asp1281Asn
NM_002016.1:c.3841G>A , LRG_1028t1:c.3841G>A NP_002007.1:p.Asp1281Asn
XM_011509329.1:c.3841G>A XP_011507631.1:p.Asp1281Asn
NM_002016.2:c.3841G>A MANE Select NP_002007.1:p.Asp1281Asn
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