Canonical Allele Identifier: CA126410
Gene: FGG HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.154604995G>C
GRCh37 chr4:g.155526147G>C
Revel Score:
ENST00000404648 0.647
ENST00000405164 0.647
ENST00000336098 (MANE Select) 0.647
ENST00000407946 0.647
ClinVar RCV:
RCV000017795
ClinVar Variation:
16373
dbSNP:
75848804
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.154604995G>C , CM000666.2:g.154604995G>C GRCh38
NC_000004.11:g.155526147G>C , CM000666.1:g.155526147G>C GRCh37
NC_000004.10:g.155745597G>C NCBI36
NG_008834.1:g.12756C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000336098.8:c.1201C>G MANE Select ENSP00000336829.3:p.Arg401Gly
ENST00000336098.7:c.1201C>G ENSP00000336829.3:p.Arg401Gly
ENST00000404648.7:c.1201C>G ENSP00000384860.3:p.Arg401Gly
ENST00000405164.5:c.1225C>G ENSP00000384101.1:p.Arg409Gly
ENST00000407946.5:c.1225C>G ENSP00000384552.1:p.Arg409Gly
ENST00000465913.1:n.749C>G
ENST00000492082.5:n.1743C>G
NM_000509.4:c.1201C>G NP_000500.2:p.Arg401Gly
NM_000509.5:c.1201C>G NP_000500.2:p.Arg401Gly
NM_021870.2:c.1201C>G NP_068656.2:p.Arg401Gly
NM_021870.3:c.1201C>G MANE Select NP_068656.2:p.Arg401Gly
NM_000509.6:c.1201C>G NP_000500.2:p.Arg401Gly
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