Canonical Allele Identifier: CA1107236
Gene: FLG HGNC NCBI

Linked Data

ClinVar Variation Id: 3095446
ClinVar RCV Id: RCV004386764
dbSNP Id: rs765886974
ExAC: 1:152285045 G / T
gnomAD v2: 1-152285045-G-T
gnomAD v3: 1-152312569-G-T
gnomAD v4: 1-152312569-G-T
MyVariant Identifiers: chr1:g.152285045G>T (hg19) chr1:g.152312569G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152312569G>T , CM000663.2:g.152312569G>T GRCh38
NC_000001.10:g.152285045G>T , CM000663.1:g.152285045G>T GRCh37
NC_000001.9:g.150551669G>T NCBI36
NG_016190.1:g.17635C>A , LRG_1028:g.17635C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.2317C>A MANE Select ENSP00000357789.1:p.Gln773Lys
ENST00000368799.1:c.2317C>A ENSP00000357789.1:p.Gln773Lys
NM_002016.1:c.2317C>A , LRG_1028t1:c.2317C>A NP_002007.1:p.Gln773Lys
XM_011509329.1:c.2317C>A XP_011507631.1:p.Gln773Lys
NM_002016.2:c.2317C>A MANE Select NP_002007.1:p.Gln773Lys
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