Canonical Allele Identifier: CA1107252
Gene: FLG HGNC NCBI

Linked Data

dbSNP Id: rs11204979
ExAC: 1:152285079 T / C
gnomAD v2: 1-152285079-T-C
gnomAD v4: 1-152312603-T-C
MyVariant Identifiers: chr1:g.152285079T>C (hg19) chr1:g.152312603T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152312603T>C , CM000663.2:g.152312603T>C GRCh38
NC_000001.10:g.152285079T>C , CM000663.1:g.152285079T>C GRCh37
NC_000001.9:g.150551703T>C NCBI36
NG_016190.1:g.17601A>G , LRG_1028:g.17601A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.2283A>G MANE Select ENSP00000357789.1:p.Ser761=
ENST00000368799.1:c.2283A>G ENSP00000357789.1:p.Ser761=
NM_002016.1:c.2283A>G , LRG_1028t1:c.2283A>G NP_002007.1:p.Ser761=
XM_011509329.1:c.2283A>G XP_011507631.1:p.Ser761=
NM_002016.2:c.2283A>G MANE Select NP_002007.1:p.Ser761=
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