Canonical Allele Identifier: CA108774405

Gene: FGG

Linked Data

• ClinVar Variation Id: 2572634
• ClinVar RCV Id: RCV003314519
• dbSNP Id: rs75848804
• gnomAD v4: 4-154604995-G-A
• MyVariant Identifiers: chr4:g.155526147G>A (hg19) ; chr4:g.154604995G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.154604995G>A , CM000666.2:g.154604995G>A	GRCh38
NC_000004.11:g.155526147G>A , CM000666.1:g.155526147G>A	GRCh37
NC_000004.10:g.155745597G>A	NCBI36
NG_008834.1:g.12756C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000336098.8:c.1201C>T MANE Select	ENSP00000336829.3:p.Arg401Trp
ENST00000336098.7:c.1201C>T	ENSP00000336829.3:p.Arg401Trp
ENST00000404648.7:c.1201C>T	ENSP00000384860.3:p.Arg401Trp
ENST00000405164.5:c.1225C>T	ENSP00000384101.1:p.Arg409Trp
ENST00000407946.5:c.1225C>T	ENSP00000384552.1:p.Arg409Trp
ENST00000465913.1:n.749C>T
ENST00000492082.5:n.1743C>T
NM_000509.4:c.1201C>T	NP_000500.2:p.Arg401Trp
NM_000509.5:c.1201C>T	NP_000500.2:p.Arg401Trp
NM_021870.2:c.1201C>T	NP_068656.2:p.Arg401Trp
NM_021870.3:c.1201C>T MANE Select	NP_068656.2:p.Arg401Trp
NM_000509.6:c.1201C>T	NP_000500.2:p.Arg401Trp