Canonical Allele Identifier: CA217201

Gene: GFAP

Linked Data

• ClinVar Variation Id: 66491
• ClinVar RCV Id: RCV000056892 ; RCV000192128
• dbSNP Id: rs267607500
• MyVariant Identifiers: chr17:g.42990798C>T (hg19) ; chr17:g.44913430C>T (hg38)
• PubMed: PMID:15732097 ; PMID:15732098 ; PMID:17156703 ; PMID:20301351

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44913430C>T , CM000679.2:g.44913430C>T	GRCh38
NC_000017.10:g.42990798C>T , CM000679.1:g.42990798C>T	GRCh37
NC_000017.9:g.40346324C>T	NCBI36
NG_008401.1:g.7117G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000253408.11:c.619G>A	ENSP00000253408.5:p.Glu207Lys
ENST00000435360.8:c.619G>A	ENSP00000403962.1:p.Glu207Lys
ENST00000253408.10:c.619G>A	ENSP00000253408.5:p.Glu207Lys
ENST00000435360.7:c.619G>A	ENSP00000403962.1:p.Glu207Lys
ENST00000586127.6:n.1148G>A
ENST00000586793.6:c.619G>A	ENSP00000468500.2:p.Glu207Lys
ENST00000587997.6:n.95G>A
ENST00000588735.3:c.619G>A MANE Select	ENSP00000466598.2:p.Glu207Lys
ENST00000591327.2:n.1773G>A
ENST00000592320.6:c.618+298G>A	ENSP00000465320.1:n.618+298G>A
ENST00000638281.1:c.619G>A	ENSP00000491088.1:p.Glu207Lys
ENST00000638618.1:c.274G>A	ENSP00000492832.1:p.Glu92Lys
ENST00000639277.1:c.619G>A	ENSP00000492432.1:p.Glu207Lys
ENST00000640552.1:n.633G>A
ENST00000253408.9:c.619G>A	ENSP00000253408.4:p.Glu207Lys
ENST00000376990.8:c.*18G>A	ENSP00000366189.4:n.*18G>A
ENST00000435360.6:c.619G>A	ENSP00000403962.1:p.Glu207Lys
ENST00000585728.5:c.*263G>A	ENSP00000465208.1:n.*263G>A
ENST00000586127.5:c.-43G>A	ENSP00000464795.1:n.-43G>A
ENST00000586793.5:c.619G>A	ENSP00000468500.1:p.Glu207Lys
ENST00000587997.5:c.95G>A
ENST00000588316.1:c.523G>A	ENSP00000465629.1:p.Glu175Lys
ENST00000588735.1:c.82+1975G>A	ENSP00000466598.1:n.82+1975G>A
ENST00000588957.5:c.-114G>A	ENSP00000465565.1:n.-114G>A
ENST00000590922.1:n.269G>A
ENST00000591327.1:n.572G>A
ENST00000592320.5:c.618+298G>A	ENSP00000465320.1:n.618+298G>A
NM_001131019.2:c.619G>A	NP_001124491.1:p.Glu207Lys
NM_001242376.1:c.619G>A	NP_001229305.1:p.Glu207Lys
NM_002055.4:c.619G>A	NP_002046.1:p.Glu207Lys
NM_001363846.1:c.619G>A	NP_001350775.1:p.Glu207Lys
XM_024450690.1:c.823G>A	XP_024306458.1:p.Glu275Lys
XM_024450691.1:c.823G>A	XP_024306459.1:p.Glu275Lys
XM_024450692.1:c.823G>A	XP_024306460.1:p.Glu275Lys
XM_024450693.1:c.823G>A	XP_024306461.1:p.Glu275Lys
NM_002055.5:c.619G>A MANE Select	NP_002046.1:p.Glu207Lys
NM_001131019.3:c.619G>A	NP_001124491.1:p.Glu207Lys
NM_001242376.2:c.619G>A	NP_001229305.1:p.Glu207Lys
NM_001242376.3:c.619G>A	NP_001229305.1:p.Glu207Lys
NM_001363846.2:c.619G>A	NP_001350775.1:p.Glu207Lys