Canonical Allele Identifier: CA342054640
Gene: FLG HGNC NCBI

Linked Data

dbSNP Id: rs763927334
gnomAD v4: 1-152308607-C-A
MyVariant Identifiers: chr1:g.152281083C>A (hg19) chr1:g.152308607C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152308607C>A , CM000663.2:g.152308607C>A GRCh38
NC_000001.10:g.152281083C>A , CM000663.1:g.152281083C>A GRCh37
NC_000001.9:g.150547707C>A NCBI36
NG_016190.1:g.21597G>T , LRG_1028:g.21597G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.6279G>T MANE Select ENSP00000357789.1:p.Gln2093His
ENST00000368799.1:c.6279G>T ENSP00000357789.1:p.Gln2093His
NM_002016.1:c.6279G>T , LRG_1028t1:c.6279G>T NP_002007.1:p.Gln2093His
XM_011509329.1:c.6279G>T XP_011507631.1:p.Gln2093His
NM_002016.2:c.6279G>T MANE Select NP_002007.1:p.Gln2093His
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