Canonical Allele Identifier: CA217233
Gene: GFAP HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 66513
ClinVar RCV Id: RCV000056917
dbSNP Id: rs267607513

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44911375G>C , CM000679.2:g.44911375G>C GRCh38
NC_000017.10:g.42988743G>C , CM000679.1:g.42988743G>C GRCh37
NC_000017.9:g.40344269G>C NCBI36
NG_008401.1:g.9172C>G

Transcript Alleles

HGVS Amino-acid change
NM_001131019.2:c.988C>G VV NP_001124491.1:p.Arg330Gly
NM_001242376.1:c.988C>G VV NP_001229305.1:p.Arg330Gly
NM_002055.4:c.988C>G VV NP_002046.1:p.Arg330Gly
NM_001363846.1:c.988C>G VV NP_001350775.1:p.Arg330Gly
XM_024450690.1:c.1192C>G XP_024306458.1:p.Arg398Gly
XM_024450691.1:c.1192C>G XP_024306459.1:p.Arg398Gly
XM_024450692.1:c.1192C>G XP_024306460.1:p.Arg398Gly
XM_024450693.1:c.1192C>G XP_024306461.1:p.Arg398Gly
NM_002055.5:c.988C>G VV MANE Preferred NP_002046.1:p.Arg330Gly
ENST00000253408.9:c.988C>G ENSP00000253408.4:p.Arg330Gly
ENST00000376990.8:c.*387C>G ENSP00000366189.4:p.=
ENST00000435360.6:c.988C>G ENSP00000403962.1:p.Arg330Gly
ENST00000585543.5:n.141C>G
ENST00000586793.5:c.988C>G ENSP00000468500.1:p.Arg330Gly
ENST00000587997.5:n.464C>G
ENST00000588640.5:n.368C>G
ENST00000588735.1:c.83-3259C>G ENSP00000466598.1:p.=
ENST00000592320.5:c.619-54C>G ENSP00000465320.1:p.=