Canonical Allele Identifier: CA3115449
Gene: FGG HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.154604818G>A
GRCh37 chr4:g.155525970G>A
gnomAD v2:
4:155525970 G / A
gnomAD v3:
4:154604818 G / A
gnomAD v4:
chr4-154604818-G-A
Joint Max Group AF 0.80245968 (EAS)
Genomes Max Group AF 0.78238745 (EAS)
Exomes Max Group AF 0.80288134 (EAS)
dbSNP:
1049636
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.154604818G>A , CM000666.2:g.154604818G>A GRCh38
NC_000004.11:g.155525970G>A , CM000666.1:g.155525970G>A GRCh37
NC_000004.10:g.155745420G>A NCBI36
NG_008834.1:g.12933C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000336098.8:c.*16C>T MANE Select ENSP00000336829.3:n.*16C>T
ENST00000336098.7:c.*16C>T ENSP00000336829.3:n.*16C>T
ENST00000404648.7:c.1299+79C>T ENSP00000384860.3:n.1299+79C>T
ENST00000405164.5:c.1323+79C>T ENSP00000384101.1:n.1323+79C>T
ENST00000407946.5:c.*16C>T ENSP00000384552.1:n.*16C>T
ENST00000465913.1:n.926C>T
ENST00000492082.5:n.1841+79C>T
NM_000509.4:c.1299+79C>T NP_000500.2:n.1299+79C>T
NM_000509.5:c.1299+79C>T NP_000500.2:n.1299+79C>T
NM_021870.2:c.*16C>T NP_068656.2:n.*16C>T
NM_021870.3:c.*16C>T MANE Select NP_068656.2:n.*16C>T
NM_000509.6:c.1299+79C>T NP_000500.2:n.1299+79C>T
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