Canonical Allele Identifier: CA342081715
Gene: FLG HGNC NCBI

Linked Data

dbSNP Id: rs756249581
gnomAD v3: 1-152311294-T-C
gnomAD v4: 1-152311294-T-C
MyVariant Identifiers: chr1:g.152283770T>C (hg19) chr1:g.152311294T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152311294T>C , CM000663.2:g.152311294T>C GRCh38
NC_000001.10:g.152283770T>C , CM000663.1:g.152283770T>C GRCh37
NC_000001.9:g.150550394T>C NCBI36
NG_016190.1:g.18910A>G , LRG_1028:g.18910A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.3592A>G MANE Select ENSP00000357789.1:p.Thr1198Ala
ENST00000368799.1:c.3592A>G ENSP00000357789.1:p.Thr1198Ala
NM_002016.1:c.3592A>G , LRG_1028t1:c.3592A>G NP_002007.1:p.Thr1198Ala
XM_011509329.1:c.3592A>G XP_011507631.1:p.Thr1198Ala
NM_002016.2:c.3592A>G MANE Select NP_002007.1:p.Thr1198Ala
Search 100 bp 5'
Search 100 bp 3'