Canonical Allele Identifier: CA342057451
Gene: FLG HGNC NCBI

Linked Data

ClinVar Variation Id: 2282913
ClinVar RCV Id: RCV002840396
dbSNP Id: rs1388580123
gnomAD v3: 1-152308750-C-T
gnomAD v4: 1-152308750-C-T
MyVariant Identifiers: chr1:g.152281226C>T (hg19) chr1:g.152308750C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152308750C>T , CM000663.2:g.152308750C>T GRCh38
NC_000001.10:g.152281226C>T , CM000663.1:g.152281226C>T GRCh37
NC_000001.9:g.150547850C>T NCBI36
NG_016190.1:g.21454G>A , LRG_1028:g.21454G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.6136G>A MANE Select ENSP00000357789.1:p.Asp2046Asn
ENST00000368799.1:c.6136G>A ENSP00000357789.1:p.Asp2046Asn
NM_002016.1:c.6136G>A , LRG_1028t1:c.6136G>A NP_002007.1:p.Asp2046Asn
XM_011509329.1:c.6136G>A XP_011507631.1:p.Asp2046Asn
NM_002016.2:c.6136G>A MANE Select NP_002007.1:p.Asp2046Asn
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