Canonical Allele Identifier: CA1104827
Gene: FLG HGNC NCBI

Linked Data

ClinVar Variation Id: 1198208
ClinVar RCV Id: RCV001562294
dbSNP Id: rs138488969
ExAC: 1:152280110 C / T
gnomAD v2: 1-152280110-C-T
gnomAD v3: 1-152307634-C-T
gnomAD v4: 1-152307634-C-T
MyVariant Identifiers: chr1:g.152280110C>T (hg19) chr1:g.152307634C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152307634C>T , CM000663.2:g.152307634C>T GRCh38
NC_000001.10:g.152280110C>T , CM000663.1:g.152280110C>T GRCh37
NC_000001.9:g.150546734C>T NCBI36
NG_016190.1:g.22570G>A , LRG_1028:g.22570G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.7252G>A MANE Select ENSP00000357789.1:p.Val2418Met
ENST00000368799.1:c.7252G>A ENSP00000357789.1:p.Val2418Met
NM_002016.1:c.7252G>A , LRG_1028t1:c.7252G>A NP_002007.1:p.Val2418Met
XM_011509329.1:c.7252G>A XP_011507631.1:p.Val2418Met
NM_002016.2:c.7252G>A MANE Select NP_002007.1:p.Val2418Met
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