Canonical Allele Identifier: CA342068741
Gene: FLG HGNC NCBI

Linked Data

dbSNP Id: rs1472729576
gnomAD v4: 1-152304309-G-T
MyVariant Identifiers: chr1:g.152276785G>T (hg19) chr1:g.152304309G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152304309G>T , CM000663.2:g.152304309G>T GRCh38
NC_000001.10:g.152276785G>T , CM000663.1:g.152276785G>T GRCh37
NC_000001.9:g.150543409G>T NCBI36
NG_016190.1:g.25895C>A , LRG_1028:g.25895C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.10577C>A MANE Select ENSP00000357789.1:p.Ser3526Ter
ENST00000368799.1:c.10577C>A ENSP00000357789.1:p.Ser3526Ter
NM_002016.1:c.10577C>A , LRG_1028t1:c.10577C>A NP_002007.1:p.Ser3526Ter
XM_011509329.1:c.9109-476C>A XP_011507631.1:n.9109-476C>A
NM_002016.2:c.10577C>A MANE Select NP_002007.1:p.Ser3526Ter
Search 100 bp 5'
Search 100 bp 3'