Canonical Allele Identifier: CA126399
Gene: FGG HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.154606827A>G
GRCh37 chr4:g.155527979A>G
Revel Score:
ENST00000404648 0.897
ENST00000405164 0.897
ENST00000336098 (MANE Select) 0.897
ENST00000407946 0.897
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.154606827A>G , CM000666.2:g.154606827A>G GRCh38
NC_000004.11:g.155527979A>G , CM000666.1:g.155527979A>G GRCh37
NC_000004.10:g.155747429A>G NCBI36
NG_008834.1:g.10924T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000336098.8:c.1007T>C MANE Select ENSP00000336829.3:p.Met336Thr
ENST00000336098.7:c.1007T>C ENSP00000336829.3:p.Met336Thr
ENST00000404648.7:c.1007T>C ENSP00000384860.3:p.Met336Thr
ENST00000405164.5:c.1031T>C ENSP00000384101.1:p.Met344Thr
ENST00000407946.5:c.1031T>C ENSP00000384552.1:p.Met344Thr
ENST00000465913.1:n.555T>C
ENST00000492082.5:n.1549T>C
NM_000509.4:c.1007T>C NP_000500.2:p.Met336Thr
NM_000509.5:c.1007T>C NP_000500.2:p.Met336Thr
NM_021870.2:c.1007T>C NP_068656.2:p.Met336Thr
NM_021870.3:c.1007T>C MANE Select NP_068656.2:p.Met336Thr
NM_000509.6:c.1007T>C NP_000500.2:p.Met336Thr
Search 100 bp 5'
Search 100 bp 3'