Canonical Allele Identifier: CA347212

Gene: GFAP

Linked Data

• ClinVar Variation Id: 190350
• ClinVar RCV Id: RCV000192150
• dbSNP Id: rs797044583
• MyVariant Identifiers: chr17:g.42989078G>C (hg19) ; chr17:g.44911710G>C (hg38)
• PubMed: PMID:20301351 ; PMID:21572052

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44911710G>C , CM000679.2:g.44911710G>C	GRCh38
NC_000017.10:g.42989078G>C , CM000679.1:g.42989078G>C	GRCh37
NC_000017.9:g.40344604G>C	NCBI36
NG_008401.1:g.8837C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253408.11:c.868C>G	ENSP00000253408.5:p.Gln290Glu
ENST00000435360.8:c.868C>G	ENSP00000403962.1:p.Gln290Glu
ENST00000253408.10:c.868C>G	ENSP00000253408.5:p.Gln290Glu
ENST00000435360.7:c.868C>G	ENSP00000403962.1:p.Gln290Glu
ENST00000586127.6:n.1397C>G
ENST00000586793.6:c.868C>G	ENSP00000468500.2:p.Gln290Glu
ENST00000587997.6:n.344C>G
ENST00000588735.3:c.868C>G MANE Select	ENSP00000466598.2:p.Gln290Glu
ENST00000591327.2:n.2022C>G
ENST00000592320.6:c.619-389C>G	ENSP00000465320.1:n.619-389C>G
ENST00000638281.1:c.868C>G	ENSP00000491088.1:p.Gln290Glu
ENST00000638618.1:c.523C>G	ENSP00000492832.1:p.Gln175Glu
ENST00000639277.1:c.868C>G	ENSP00000492432.1:p.Gln290Glu
ENST00000640552.1:n.882C>G
ENST00000253408.9:c.868C>G	ENSP00000253408.4:p.Gln290Glu
ENST00000376990.8:c.*267C>G	ENSP00000366189.4:n.*267C>G
ENST00000435360.6:c.868C>G	ENSP00000403962.1:p.Gln290Glu
ENST00000586793.5:c.868C>G	ENSP00000468500.1:p.Gln290Glu
ENST00000587997.5:c.344C>G
ENST00000588316.1:c.772C>G	ENSP00000465629.1:p.Gln258Glu
ENST00000588640.5:n.248C>G
ENST00000588735.1:c.83-3594C>G	ENSP00000466598.1:n.83-3594C>G
ENST00000588957.5:c.136C>G	ENSP00000465565.1:p.Gln46Glu
ENST00000590922.1:n.518C>G
ENST00000591719.5:n.502C>G
ENST00000592320.5:c.619-389C>G	ENSP00000465320.1:n.619-389C>G
NM_001131019.2:c.868C>G	NP_001124491.1:p.Gln290Glu
NM_001242376.1:c.868C>G	NP_001229305.1:p.Gln290Glu
NM_002055.4:c.868C>G	NP_002046.1:p.Gln290Glu
NM_001363846.1:c.868C>G	NP_001350775.1:p.Gln290Glu
XM_024450690.1:c.1072C>G	XP_024306458.1:p.Gln358Glu
XM_024450691.1:c.1072C>G	XP_024306459.1:p.Gln358Glu
XM_024450692.1:c.1072C>G	XP_024306460.1:p.Gln358Glu
XM_024450693.1:c.1072C>G	XP_024306461.1:p.Gln358Glu
NM_002055.5:c.868C>G MANE Select	NP_002046.1:p.Gln290Glu
NM_001131019.3:c.868C>G	NP_001124491.1:p.Gln290Glu
NM_001242376.2:c.868C>G	NP_001229305.1:p.Gln290Glu
NM_001242376.3:c.868C>G	NP_001229305.1:p.Gln290Glu
NM_001363846.2:c.868C>G	NP_001350775.1:p.Gln290Glu