Canonical Allele Identifier: CA217203

Gene: GFAP

Linked Data

• ClinVar Variation Id: 66493
• ClinVar RCV Id: RCV000056894 ; RCV000192130
• dbSNP Id: rs57661783
• MyVariant Identifiers: chr17:g.42990789C>T (hg19) ; chr17:g.44913421C>T (hg38)
• PubMed: PMID:15732097 ; PMID:16217707 ; PMID:16505300 ; PMID:20301351

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44913421C>T , CM000679.2:g.44913421C>T	GRCh38
NC_000017.10:g.42990789C>T , CM000679.1:g.42990789C>T	GRCh37
NC_000017.9:g.40346315C>T	NCBI36
NG_008401.1:g.7126G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253408.11:c.628G>A	ENSP00000253408.5:p.Glu210Lys
ENST00000435360.8:c.628G>A	ENSP00000403962.1:p.Glu210Lys
ENST00000253408.10:c.628G>A	ENSP00000253408.5:p.Glu210Lys
ENST00000435360.7:c.628G>A	ENSP00000403962.1:p.Glu210Lys
ENST00000586127.6:n.1157G>A
ENST00000586793.6:c.628G>A	ENSP00000468500.2:p.Glu210Lys
ENST00000587997.6:n.104G>A
ENST00000588735.3:c.628G>A MANE Select	ENSP00000466598.2:p.Glu210Lys
ENST00000591327.2:n.1782G>A
ENST00000592320.6:c.618+307G>A	ENSP00000465320.1:n.618+307G>A
ENST00000638281.1:c.628G>A	ENSP00000491088.1:p.Glu210Lys
ENST00000638618.1:c.283G>A	ENSP00000492832.1:p.Glu95Lys
ENST00000639277.1:c.628G>A	ENSP00000492432.1:p.Glu210Lys
ENST00000640552.1:n.642G>A
ENST00000253408.9:c.628G>A	ENSP00000253408.4:p.Glu210Lys
ENST00000376990.8:c.*27G>A	ENSP00000366189.4:n.*27G>A
ENST00000435360.6:c.628G>A	ENSP00000403962.1:p.Glu210Lys
ENST00000585728.5:c.*272G>A	ENSP00000465208.1:n.*272G>A
ENST00000586127.5:c.-34G>A	ENSP00000464795.1:n.-34G>A
ENST00000586793.5:c.628G>A	ENSP00000468500.1:p.Glu210Lys
ENST00000587997.5:c.104G>A
ENST00000588316.1:c.532G>A	ENSP00000465629.1:p.Glu178Lys
ENST00000588735.1:c.82+1984G>A	ENSP00000466598.1:n.82+1984G>A
ENST00000588957.5:c.-105G>A	ENSP00000465565.1:n.-105G>A
ENST00000590922.1:n.278G>A
ENST00000591327.1:n.581G>A
ENST00000592320.5:c.618+307G>A	ENSP00000465320.1:n.618+307G>A
NM_001131019.2:c.628G>A	NP_001124491.1:p.Glu210Lys
NM_001242376.1:c.628G>A	NP_001229305.1:p.Glu210Lys
NM_002055.4:c.628G>A	NP_002046.1:p.Glu210Lys
NM_001363846.1:c.628G>A	NP_001350775.1:p.Glu210Lys
XM_024450690.1:c.832G>A	XP_024306458.1:p.Glu278Lys
XM_024450691.1:c.832G>A	XP_024306459.1:p.Glu278Lys
XM_024450692.1:c.832G>A	XP_024306460.1:p.Glu278Lys
XM_024450693.1:c.832G>A	XP_024306461.1:p.Glu278Lys
NM_002055.5:c.628G>A MANE Select	NP_002046.1:p.Glu210Lys
NM_001131019.3:c.628G>A	NP_001124491.1:p.Glu210Lys
NM_001242376.2:c.628G>A	NP_001229305.1:p.Glu210Lys
NM_001242376.3:c.628G>A	NP_001229305.1:p.Glu210Lys
NM_001363846.2:c.628G>A	NP_001350775.1:p.Glu210Lys