Canonical Allele Identifier: CA108774377

Gene: FGG

Linked Data

• dbSNP Id: rs1005046731
• gnomAD v4: 4-154604913-A-G
• MyVariant Identifiers: chr4:g.155526065A>G (hg19) ; chr4:g.154604913A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.154604913A>G , CM000666.2:g.154604913A>G	GRCh38
NC_000004.11:g.155526065A>G , CM000666.1:g.155526065A>G	GRCh37
NC_000004.10:g.155745515A>G	NCBI36
NG_008834.1:g.12838T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336098.8:c.1283T>C MANE Select	ENSP00000336829.3:p.Leu428Pro
ENST00000336098.7:c.1283T>C	ENSP00000336829.3:p.Leu428Pro
ENST00000404648.7:c.1283T>C	ENSP00000384860.3:p.Leu428Pro
ENST00000405164.5:c.1307T>C	ENSP00000384101.1:p.Leu436Pro
ENST00000407946.5:c.1307T>C	ENSP00000384552.1:p.Leu436Pro
ENST00000465913.1:n.831T>C
ENST00000492082.5:n.1825T>C
NM_000509.4:c.1283T>C	NP_000500.2:p.Leu428Pro
NM_000509.5:c.1283T>C	NP_000500.2:p.Leu428Pro
NM_021870.2:c.1283T>C	NP_068656.2:p.Leu428Pro
NM_021870.3:c.1283T>C MANE Select	NP_068656.2:p.Leu428Pro
NM_000509.6:c.1283T>C	NP_000500.2:p.Leu428Pro