Canonical Allele Identifier: CA1106418
Gene: FLG HGNC NCBI

Linked Data

dbSNP Id: rs745718786
ExAC: 1:152283389 T / C
gnomAD v2: 1-152283389-T-C
gnomAD v4: 1-152310913-T-C
MyVariant Identifiers: chr1:g.152283389T>C (hg19) chr1:g.152310913T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152310913T>C , CM000663.2:g.152310913T>C GRCh38
NC_000001.10:g.152283389T>C , CM000663.1:g.152283389T>C GRCh37
NC_000001.9:g.150550013T>C NCBI36
NG_016190.1:g.19291A>G , LRG_1028:g.19291A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.3973A>G MANE Select ENSP00000357789.1:p.Ser1325Gly
ENST00000368799.1:c.3973A>G ENSP00000357789.1:p.Ser1325Gly
NM_002016.1:c.3973A>G , LRG_1028t1:c.3973A>G NP_002007.1:p.Ser1325Gly
XM_011509329.1:c.3973A>G XP_011507631.1:p.Ser1325Gly
NM_002016.2:c.3973A>G MANE Select NP_002007.1:p.Ser1325Gly
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