Canonical Allele Identifier: CA217118

Gene: GFAP

Linked Data

• ClinVar Variation Id: 66439
• ClinVar RCV Id: RCV000056833 ; RCV000192173
• dbSNP Id: rs58075601
• MyVariant Identifiers: chr17:g.42988614C>T (hg19) ; chr17:g.44911246C>T (hg38)
• PubMed: PMID:12034785 ; PMID:15732097 ; PMID:18402384 ; PMID:20301351 ; PMID:22302460

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44911246C>T , CM000679.2:g.44911246C>T	GRCh38
NC_000017.10:g.42988614C>T , CM000679.1:g.42988614C>T	GRCh37
NC_000017.9:g.40344140C>T	NCBI36
NG_008401.1:g.9301G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000253408.11:c.1117G>A	ENSP00000253408.5:p.Glu373Lys
ENST00000435360.8:c.1117G>A	ENSP00000403962.1:p.Glu373Lys
ENST00000253408.10:c.1117G>A	ENSP00000253408.5:p.Glu373Lys
ENST00000435360.7:c.1117G>A	ENSP00000403962.1:p.Glu373Lys
ENST00000585543.6:n.270G>A
ENST00000586125.2:c.52G>A	ENSP00000467397.2:p.Glu18Lys
ENST00000586127.6:n.1646G>A
ENST00000586793.6:c.982G>A	ENSP00000468500.2:p.Glu328Lys
ENST00000587997.6:n.593G>A
ENST00000588735.3:c.1117G>A MANE Select	ENSP00000466598.2:p.Glu373Lys
ENST00000591327.2:n.2271G>A
ENST00000591880.2:c.47G>A
ENST00000592320.6:c.694G>A	ENSP00000465320.1:p.Glu232Lys
ENST00000638281.1:c.1117G>A	ENSP00000491088.1:p.Glu373Lys
ENST00000638304.1:c.36G>A
ENST00000638488.1:n.58G>A
ENST00000638618.1:c.772G>A	ENSP00000492832.1:p.Glu258Lys
ENST00000639042.1:c.54G>A
ENST00000639277.1:c.1117G>A	ENSP00000492432.1:p.Glu373Lys
ENST00000639921.1:c.74G>A
ENST00000640552.1:n.1131G>A
ENST00000253408.9:c.1117G>A	ENSP00000253408.4:p.Glu373Lys
ENST00000435360.6:c.1117G>A	ENSP00000403962.1:p.Glu373Lys
ENST00000585543.5:n.270G>A
ENST00000586793.5:c.1117G>A	ENSP00000468500.1:p.Glu373Lys
ENST00000588640.5:n.497G>A
ENST00000588735.1:c.83-3130G>A	ENSP00000466598.1:n.83-3130G>A
ENST00000592320.5:c.694G>A	ENSP00000465320.1:p.Glu232Lys
NM_001131019.2:c.1117G>A	NP_001124491.1:p.Glu373Lys
NM_001242376.1:c.1117G>A	NP_001229305.1:p.Glu373Lys
NM_002055.4:c.1117G>A	NP_002046.1:p.Glu373Lys
NM_001363846.1:c.1117G>A	NP_001350775.1:p.Glu373Lys
XM_024450690.1:c.1321G>A	XP_024306458.1:p.Glu441Lys
XM_024450691.1:c.1321G>A	XP_024306459.1:p.Glu441Lys
XM_024450692.1:c.1321G>A	XP_024306460.1:p.Glu441Lys
XM_024450693.1:c.1321G>A	XP_024306461.1:p.Glu441Lys
NM_002055.5:c.1117G>A MANE Select	NP_002046.1:p.Glu373Lys
NM_001131019.3:c.1117G>A	NP_001124491.1:p.Glu373Lys
NM_001242376.2:c.1117G>A	NP_001229305.1:p.Glu373Lys
NM_001242376.3:c.1117G>A	NP_001229305.1:p.Glu373Lys
NM_001363846.2:c.1117G>A	NP_001350775.1:p.Glu373Lys