Canonical Allele Identifier: CA358535485

Gene: FGG

Linked Data

• ClinVar Variation Id: 2682873
• ClinVar RCV Id: RCV003481740
• MyVariant Identifiers: chr4:g.155526210A>T (hg19) ; chr4:g.154605058A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.154605058A>T , CM000666.2:g.154605058A>T	GRCh38
NC_000004.11:g.155526210A>T , CM000666.1:g.155526210A>T	GRCh37
NC_000004.10:g.155745660A>T	NCBI36
NG_008834.1:g.12693T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336098.8:c.1138T>A MANE Select	ENSP00000336829.3:p.Tyr380Asn
ENST00000336098.7:c.1138T>A	ENSP00000336829.3:p.Tyr380Asn
ENST00000404648.7:c.1138T>A	ENSP00000384860.3:p.Tyr380Asn
ENST00000405164.5:c.1162T>A	ENSP00000384101.1:p.Tyr388Asn
ENST00000407946.5:c.1162T>A	ENSP00000384552.1:p.Tyr388Asn
ENST00000465913.1:n.686T>A
ENST00000492082.5:n.1680T>A
NM_000509.4:c.1138T>A	NP_000500.2:p.Tyr380Asn
NM_000509.5:c.1138T>A	NP_000500.2:p.Tyr380Asn
NM_021870.2:c.1138T>A	NP_068656.2:p.Tyr380Asn
NM_021870.3:c.1138T>A MANE Select	NP_068656.2:p.Tyr380Asn
NM_000509.6:c.1138T>A	NP_000500.2:p.Tyr380Asn