Canonical Allele Identifier: CA358538573

Gene: FGG

Linked Data

• dbSNP Id: rs1269955972
• gnomAD v2: 4-155533584-C-T
• MyVariant Identifiers: chr4:g.155533584C>T (hg19) ; chr4:g.154612432C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.154612432C>T , CM000666.2:g.154612432C>T	GRCh38
NC_000004.11:g.155533584C>T , CM000666.1:g.155533584C>T	GRCh37
NC_000004.10:g.155753034C>T	NCBI36
NG_008834.1:g.5319G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336098.8:c.82G>A MANE Select	ENSP00000336829.3:p.Val28Ile
ENST00000336098.7:c.82G>A	ENSP00000336829.3:p.Val28Ile
ENST00000393846.6:c.-228G>A	ENSP00000377429.2:n.-228G>A
ENST00000404648.7:c.82G>A	ENSP00000384860.3:p.Val28Ile
ENST00000405164.5:c.82G>A	ENSP00000384101.1:p.Val28Ile
ENST00000407946.5:c.82G>A	ENSP00000384552.1:p.Val28Ile
ENST00000443553.5:c.-194G>A	ENSP00000407562.1:n.-194G>A
ENST00000464532.5:n.129G>A
ENST00000465336.1:n.129G>A
ENST00000473393.5:n.108G>A
ENST00000484695.1:n.84G>A
ENST00000492082.5:n.132G>A
NM_000509.4:c.82G>A	NP_000500.2:p.Val28Ile
NM_000509.5:c.82G>A	NP_000500.2:p.Val28Ile
NM_021870.2:c.82G>A	NP_068656.2:p.Val28Ile
NM_021870.3:c.82G>A MANE Select	NP_068656.2:p.Val28Ile
NM_000509.6:c.82G>A	NP_000500.2:p.Val28Ile