Canonical Allele Identifier: CA3115445

Gene: FGG

Linked Data

• dbSNP Id: rs747892107
• ExAC: 4:155525937 A / G
• gnomAD v2: 4-155525937-A-G
• gnomAD v4: 4-154604785-A-G
• MyVariant Identifiers: chr4:g.155525937A>G (hg19) ; chr4:g.154604785A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.154604785A>G , CM000666.2:g.154604785A>G	GRCh38
NC_000004.11:g.155525937A>G , CM000666.1:g.155525937A>G	GRCh37
NC_000004.10:g.155745387A>G	NCBI36
NG_008834.1:g.12966T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336098.8:c.*49T>C MANE Select	ENSP00000336829.3:n.*49T>C
ENST00000336098.7:c.*49T>C	ENSP00000336829.3:n.*49T>C
ENST00000404648.7:c.1299+112T>C	ENSP00000384860.3:n.1299+112T>C
ENST00000405164.5:c.1323+112T>C	ENSP00000384101.1:n.1323+112T>C
ENST00000407946.5:c.*49T>C	ENSP00000384552.1:n.*49T>C
ENST00000465913.1:n.959T>C
ENST00000492082.5:n.1841+112T>C
NM_000509.4:c.1299+112T>C	NP_000500.2:n.1299+112T>C
NM_000509.5:c.1299+112T>C	NP_000500.2:n.1299+112T>C
NM_021870.2:c.*49T>C	NP_068656.2:n.*49T>C
NM_021870.3:c.*49T>C MANE Select	NP_068656.2:n.*49T>C
NM_000509.6:c.1299+112T>C	NP_000500.2:n.1299+112T>C