Canonical Allele Identifier: CA342061542
Gene: FLG HGNC NCBI

Linked Data

dbSNP Id: rs561463895
gnomAD v2: 1-152281625-T-A
MyVariant Identifiers: chr1:g.152281625T>A (hg19) chr1:g.152309149T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152309149T>A , CM000663.2:g.152309149T>A GRCh38
NC_000001.10:g.152281625T>A , CM000663.1:g.152281625T>A GRCh37
NC_000001.9:g.150548249T>A NCBI36
NG_016190.1:g.21055A>T , LRG_1028:g.21055A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.5737A>T MANE Select ENSP00000357789.1:p.Asn1913Tyr
ENST00000368799.1:c.5737A>T ENSP00000357789.1:p.Asn1913Tyr
NM_002016.1:c.5737A>T , LRG_1028t1:c.5737A>T NP_002007.1:p.Asn1913Tyr
XM_011509329.1:c.5737A>T XP_011507631.1:p.Asn1913Tyr
NM_002016.2:c.5737A>T MANE Select NP_002007.1:p.Asn1913Tyr
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