Canonical Allele Identifier: CA217107
Gene: GFAP HGNC NCBI

Linked Data

ClinVar Variation Id: 16176
ClinVar RCV Id: RCV000017559 RCV000056825
dbSNP Id: rs121909718
MyVariant Identifiers: chr17:g.42988645C>G (hg19) chr17:g.44911277C>G (hg38)
PubMed: PMID:12034796 PMID:20301351
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44911277C>G , CM000679.2:g.44911277C>G GRCh38
NC_000017.10:g.42988645C>G , CM000679.1:g.42988645C>G GRCh37
NC_000017.9:g.40344171C>G NCBI36
NG_008401.1:g.9270G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000253408.11:c.1086G>C ENSP00000253408.5:p.Glu362Asp
ENST00000435360.8:c.1086G>C ENSP00000403962.1:p.Glu362Asp
ENST00000253408.10:c.1086G>C ENSP00000253408.5:p.Glu362Asp
ENST00000435360.7:c.1086G>C ENSP00000403962.1:p.Glu362Asp
ENST00000585543.6:n.239G>C
ENST00000586125.2:c.21G>C ENSP00000467397.2:p.Glu7Asp
ENST00000586127.6:n.1615G>C
ENST00000586793.6:c.951G>C ENSP00000468500.2:p.Glu317Asp
ENST00000587997.6:n.562G>C
ENST00000588735.3:c.1086G>C MANE Select ENSP00000466598.2:p.Glu362Asp
ENST00000591327.2:n.2240G>C
ENST00000591880.2:c.16G>C
ENST00000592320.6:c.663G>C ENSP00000465320.1:p.Glu221Asp
ENST00000638281.1:c.1086G>C ENSP00000491088.1:p.Glu362Asp
ENST00000638304.1:c.5G>C
ENST00000638488.1:n.27G>C
ENST00000638618.1:c.741G>C ENSP00000492832.1:p.Glu247Asp
ENST00000639042.1:c.23G>C
ENST00000639277.1:c.1086G>C ENSP00000492432.1:p.Glu362Asp
ENST00000639921.1:c.43G>C
ENST00000640552.1:n.1100G>C
ENST00000253408.9:c.1086G>C ENSP00000253408.4:p.Glu362Asp
ENST00000435360.6:c.1086G>C ENSP00000403962.1:p.Glu362Asp
ENST00000585543.5:n.239G>C
ENST00000586793.5:c.1086G>C ENSP00000468500.1:p.Glu362Asp
ENST00000587997.5:c.562G>C
ENST00000588640.5:n.466G>C
ENST00000588735.1:c.83-3161G>C ENSP00000466598.1:n.83-3161G>C
ENST00000592320.5:c.663G>C ENSP00000465320.1:p.Glu221Asp
NM_001131019.2:c.1086G>C NP_001124491.1:p.Glu362Asp
NM_001242376.1:c.1086G>C NP_001229305.1:p.Glu362Asp
NM_002055.4:c.1086G>C NP_002046.1:p.Glu362Asp
NM_001363846.1:c.1086G>C NP_001350775.1:p.Glu362Asp
XM_024450690.1:c.1290G>C XP_024306458.1:p.Glu430Asp
XM_024450691.1:c.1290G>C XP_024306459.1:p.Glu430Asp
XM_024450692.1:c.1290G>C XP_024306460.1:p.Glu430Asp
XM_024450693.1:c.1290G>C XP_024306461.1:p.Glu430Asp
NM_002055.5:c.1086G>C MANE Select NP_002046.1:p.Glu362Asp
NM_001131019.3:c.1086G>C NP_001124491.1:p.Glu362Asp
NM_001242376.2:c.1086G>C NP_001229305.1:p.Glu362Asp
NM_001242376.3:c.1086G>C NP_001229305.1:p.Glu362Asp
NM_001363846.2:c.1086G>C NP_001350775.1:p.Glu362Asp
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