Canonical Allele Identifier: CA1107605

Gene: FLG

Linked Data

• dbSNP Id: rs61816761
• ExAC: 1:152285861 G / T
• gnomAD v2: 1-152285861-G-T
• gnomAD v3: 1-152313385-G-T
• gnomAD v4: 1-152313385-G-T
• MyVariant Identifiers: chr1:g.152285861G>T (hg19) ; chr1:g.152313385G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.152313385G>T , CM000663.2:g.152313385G>T	GRCh38
NC_000001.10:g.152285861G>T , CM000663.1:g.152285861G>T	GRCh37
NC_000001.9:g.150552485G>T	NCBI36
NG_016190.1:g.16819C>A , LRG_1028:g.16819C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000368799.2:c.1501C>A MANE Select	ENSP00000357789.1:p.Arg501=
ENST00000368799.1:c.1501C>A	ENSP00000357789.1:p.Arg501=
NM_002016.1:c.1501C>A , LRG_1028t1:c.1501C>A	NP_002007.1:p.Arg501=
XM_011509329.1:c.1501C>A	XP_011507631.1:p.Arg501=
NM_002016.2:c.1501C>A MANE Select	NP_002007.1:p.Arg501=