Canonical Allele Identifier: CA358534997

Gene: FGG

Linked Data

• dbSNP Id: rs1731067543
• gnomAD v3: 4-154604837-C-A
• gnomAD v4: 4-154604837-C-A
• MyVariant Identifiers: chr4:g.155525989C>A (hg19) ; chr4:g.154604837C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.154604837C>A , CM000666.2:g.154604837C>A	GRCh38
NC_000004.11:g.155525989C>A , CM000666.1:g.155525989C>A	GRCh37
NC_000004.10:g.155745439C>A	NCBI36
NG_008834.1:g.12914G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000336098.8:c.1359G>T MANE Select	ENSP00000336829.3:p.Leu453Phe
ENST00000336098.7:c.1359G>T	ENSP00000336829.3:p.Leu453Phe
ENST00000404648.7:c.1299+60G>T	ENSP00000384860.3:n.1299+60G>T
ENST00000405164.5:c.1323+60G>T	ENSP00000384101.1:n.1323+60G>T
ENST00000407946.5:c.1383G>T	ENSP00000384552.1:p.Leu461Phe
ENST00000465913.1:n.907G>T
ENST00000492082.5:n.1841+60G>T
NM_000509.4:c.1299+60G>T	NP_000500.2:n.1299+60G>T
NM_000509.5:c.1299+60G>T	NP_000500.2:n.1299+60G>T
NM_021870.2:c.1359G>T	NP_068656.2:p.Leu453Phe
NM_021870.3:c.1359G>T MANE Select	NP_068656.2:p.Leu453Phe
NM_000509.6:c.1299+60G>T	NP_000500.2:n.1299+60G>T