Canonical Allele Identifier: CA342048288
Gene: FLG HGNC NCBI

Linked Data

dbSNP Id: rs2101641949
gnomAD v3: 1-152307702-C-T
gnomAD v4: 1-152307702-C-T
MyVariant Identifiers: chr1:g.152280178C>T (hg19) chr1:g.152307702C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152307702C>T , CM000663.2:g.152307702C>T GRCh38
NC_000001.10:g.152280178C>T , CM000663.1:g.152280178C>T GRCh37
NC_000001.9:g.150546802C>T NCBI36
NG_016190.1:g.22502G>A , LRG_1028:g.22502G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.7184G>A MANE Select ENSP00000357789.1:p.Ser2395Asn
ENST00000368799.1:c.7184G>A ENSP00000357789.1:p.Ser2395Asn
NM_002016.1:c.7184G>A , LRG_1028t1:c.7184G>A NP_002007.1:p.Ser2395Asn
XM_011509329.1:c.7184G>A XP_011507631.1:p.Ser2395Asn
NM_002016.2:c.7184G>A MANE Select NP_002007.1:p.Ser2395Asn
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