Canonical Allele Identifier: CA217119

Gene: GFAP

Linked Data

• ClinVar Variation Id: 66440
• ClinVar RCV Id: RCV000056834 ; RCV000192174
• dbSNP Id: rs58075601
• MyVariant Identifiers: chr17:g.42988614C>G (hg19) ; chr17:g.44911246C>G (hg38)
• PubMed: PMID:15732097 ; PMID:20301351

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000253408.11:c.1117G>C	ENSP00000253408.5:p.Glu373Gln
ENST00000435360.8:c.1117G>C	ENSP00000403962.1:p.Glu373Gln
ENST00000253408.10:c.1117G>C	ENSP00000253408.5:p.Glu373Gln
ENST00000435360.7:c.1117G>C	ENSP00000403962.1:p.Glu373Gln
ENST00000585543.6:n.270G>C
ENST00000586125.2:c.52G>C	ENSP00000467397.2:p.Glu18Gln
ENST00000586127.6:n.1646G>C
ENST00000586793.6:c.982G>C	ENSP00000468500.2:p.Glu328Gln
ENST00000587997.6:n.593G>C
ENST00000588735.3:c.1117G>C MANE Select	ENSP00000466598.2:p.Glu373Gln
ENST00000591327.2:n.2271G>C
ENST00000591880.2:c.47G>C
ENST00000592320.6:c.694G>C	ENSP00000465320.1:p.Glu232Gln
ENST00000638281.1:c.1117G>C	ENSP00000491088.1:p.Glu373Gln
ENST00000638304.1:c.36G>C
ENST00000638488.1:n.58G>C
ENST00000638618.1:c.772G>C	ENSP00000492832.1:p.Glu258Gln
ENST00000639042.1:c.54G>C
ENST00000639277.1:c.1117G>C	ENSP00000492432.1:p.Glu373Gln
ENST00000639921.1:c.74G>C
ENST00000640552.1:n.1131G>C
ENST00000253408.9:c.1117G>C	ENSP00000253408.4:p.Glu373Gln
ENST00000435360.6:c.1117G>C	ENSP00000403962.1:p.Glu373Gln
ENST00000585543.5:n.270G>C
ENST00000586793.5:c.1117G>C	ENSP00000468500.1:p.Glu373Gln
ENST00000588640.5:n.497G>C
ENST00000588735.1:c.83-3130G>C	ENSP00000466598.1:n.83-3130G>C
ENST00000592320.5:c.694G>C	ENSP00000465320.1:p.Glu232Gln
NM_001131019.2:c.1117G>C	NP_001124491.1:p.Glu373Gln
NM_001242376.1:c.1117G>C	NP_001229305.1:p.Glu373Gln
NM_002055.4:c.1117G>C	NP_002046.1:p.Glu373Gln
NM_001363846.1:c.1117G>C	NP_001350775.1:p.Glu373Gln
XM_024450690.1:c.1321G>C	XP_024306458.1:p.Glu441Gln
XM_024450691.1:c.1321G>C	XP_024306459.1:p.Glu441Gln
XM_024450692.1:c.1321G>C	XP_024306460.1:p.Glu441Gln
XM_024450693.1:c.1321G>C	XP_024306461.1:p.Glu441Gln
NM_002055.5:c.1117G>C MANE Select	NP_002046.1:p.Glu373Gln
NM_001131019.3:c.1117G>C	NP_001124491.1:p.Glu373Gln
NM_001242376.2:c.1117G>C	NP_001229305.1:p.Glu373Gln
NM_001242376.3:c.1117G>C	NP_001229305.1:p.Glu373Gln
NM_001363846.2:c.1117G>C	NP_001350775.1:p.Glu373Gln