Canonical Allele Identifier: CA217115

Gene: GFAP

Linked Data

• ClinVar Variation Id: 66437
• ClinVar RCV Id: RCV000056831 ; RCV000192170
• dbSNP Id: rs57815192
• MyVariant Identifiers: chr17:g.42988619T>C (hg19) ; chr17:g.44911251T>C (hg38)
• PubMed: PMID:16168595 ; PMID:20301351

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44911251T>C , CM000679.2:g.44911251T>C	GRCh38
NC_000017.10:g.42988619T>C , CM000679.1:g.42988619T>C	GRCh37
NC_000017.9:g.40344145T>C	NCBI36
NG_008401.1:g.9296A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000253408.11:c.1112A>G	ENSP00000253408.5:p.Glu371Gly
ENST00000435360.8:c.1112A>G	ENSP00000403962.1:p.Glu371Gly
ENST00000253408.10:c.1112A>G	ENSP00000253408.5:p.Glu371Gly
ENST00000435360.7:c.1112A>G	ENSP00000403962.1:p.Glu371Gly
ENST00000585543.6:n.265A>G
ENST00000586125.2:c.47A>G	ENSP00000467397.2:p.Glu16Gly
ENST00000586127.6:n.1641A>G
ENST00000586793.6:c.977A>G	ENSP00000468500.2:p.Glu326Gly
ENST00000587997.6:n.588A>G
ENST00000588735.3:c.1112A>G MANE Select	ENSP00000466598.2:p.Glu371Gly
ENST00000591327.2:n.2266A>G
ENST00000591880.2:c.42A>G
ENST00000592320.6:c.689A>G	ENSP00000465320.1:p.Glu230Gly
ENST00000638281.1:c.1112A>G	ENSP00000491088.1:p.Glu371Gly
ENST00000638304.1:c.31A>G
ENST00000638488.1:n.53A>G
ENST00000638618.1:c.767A>G	ENSP00000492832.1:p.Glu256Gly
ENST00000639042.1:c.49A>G
ENST00000639277.1:c.1112A>G	ENSP00000492432.1:p.Glu371Gly
ENST00000639921.1:c.69A>G
ENST00000640552.1:n.1126A>G
ENST00000253408.9:c.1112A>G	ENSP00000253408.4:p.Glu371Gly
ENST00000435360.6:c.1112A>G	ENSP00000403962.1:p.Glu371Gly
ENST00000585543.5:n.265A>G
ENST00000586793.5:c.1112A>G	ENSP00000468500.1:p.Glu371Gly
ENST00000588640.5:n.492A>G
ENST00000588735.1:c.83-3135A>G	ENSP00000466598.1:n.83-3135A>G
ENST00000592320.5:c.689A>G	ENSP00000465320.1:p.Glu230Gly
NM_001131019.2:c.1112A>G	NP_001124491.1:p.Glu371Gly
NM_001242376.1:c.1112A>G	NP_001229305.1:p.Glu371Gly
NM_002055.4:c.1112A>G	NP_002046.1:p.Glu371Gly
NM_001363846.1:c.1112A>G	NP_001350775.1:p.Glu371Gly
XM_024450690.1:c.1316A>G	XP_024306458.1:p.Glu439Gly
XM_024450691.1:c.1316A>G	XP_024306459.1:p.Glu439Gly
XM_024450692.1:c.1316A>G	XP_024306460.1:p.Glu439Gly
XM_024450693.1:c.1316A>G	XP_024306461.1:p.Glu439Gly
NM_002055.5:c.1112A>G MANE Select	NP_002046.1:p.Glu371Gly
NM_001131019.3:c.1112A>G	NP_001124491.1:p.Glu371Gly
NM_001242376.2:c.1112A>G	NP_001229305.1:p.Glu371Gly
NM_001242376.3:c.1112A>G	NP_001229305.1:p.Glu371Gly
NM_001363846.2:c.1112A>G	NP_001350775.1:p.Glu371Gly