Canonical Allele Identifier: CA126419

Gene: FGG

Linked Data

• ClinVar Variation Id: 16376
• ClinVar RCV Id: RCV000017798 ; RCV000852217
• dbSNP Id: rs587776837
• MyVariant Identifiers: chr4:g.155533679C>T (hg19) ; chr4:g.154612527C>T (hg38)
• PubMed: PMID:11001902

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.154612527C>T , CM000666.2:g.154612527C>T	GRCh38
NC_000004.11:g.155533679C>T , CM000666.1:g.155533679C>T	GRCh37
NC_000004.10:g.155753129C>T	NCBI36
NG_008834.1:g.5224G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336098.8:c.78+5G>A MANE Select	ENSP00000336829.3:n.78+5G>A
ENST00000336098.7:c.78+5G>A	ENSP00000336829.3:n.78+5G>A
ENST00000393846.6:c.-231-92G>A	ENSP00000377429.2:n.-231-92G>A
ENST00000404648.7:c.78+5G>A	ENSP00000384860.3:n.78+5G>A
ENST00000405164.5:c.78+5G>A	ENSP00000384101.1:n.78+5G>A
ENST00000407946.5:c.78+5G>A	ENSP00000384552.1:n.78+5G>A
ENST00000443553.5:c.-197-92G>A	ENSP00000407562.1:n.-197-92G>A
ENST00000464532.5:n.125+5G>A
ENST00000465336.1:n.125+5G>A
ENST00000473393.5:n.104+5G>A
ENST00000484695.1:n.80+5G>A
ENST00000492082.5:n.128+5G>A
NM_000509.4:c.78+5G>A	NP_000500.2:n.78+5G>A
NM_000509.5:c.78+5G>A	NP_000500.2:n.78+5G>A
NM_021870.2:c.78+5G>A	NP_068656.2:n.78+5G>A
NM_021870.3:c.78+5G>A MANE Select	NP_068656.2:n.78+5G>A
NM_000509.6:c.78+5G>A	NP_000500.2:n.78+5G>A