Canonical Allele Identifier: CA358535820

Gene: FGG

Linked Data

• ClinVar Variation Id: 16364
• ClinVar RCV Id: RCV000017784
• dbSNP Id: rs1578808538
• MyVariant Identifiers: chr4:g.155527984A>C (hg19) ; chr4:g.154606832A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.154606832A>C , CM000666.2:g.154606832A>C	GRCh38
NC_000004.11:g.155527984A>C , CM000666.1:g.155527984A>C	GRCh37
NC_000004.10:g.155747434A>C	NCBI36
NG_008834.1:g.10919T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336098.8:c.1002T>G MANE Select	ENSP00000336829.3:p.Asn334Lys
ENST00000336098.7:c.1002T>G	ENSP00000336829.3:p.Asn334Lys
ENST00000404648.7:c.1002T>G	ENSP00000384860.3:p.Asn334Lys
ENST00000405164.5:c.1026T>G	ENSP00000384101.1:p.Asn342Lys
ENST00000407946.5:c.1026T>G	ENSP00000384552.1:p.Asn342Lys
ENST00000465913.1:n.550T>G
ENST00000492082.5:n.1544T>G
NM_000509.4:c.1002T>G	NP_000500.2:p.Asn334Lys
NM_000509.5:c.1002T>G	NP_000500.2:p.Asn334Lys
NM_021870.2:c.1002T>G	NP_068656.2:p.Asn334Lys
NM_021870.3:c.1002T>G MANE Select	NP_068656.2:p.Asn334Lys
NM_000509.6:c.1002T>G	NP_000500.2:p.Asn334Lys