Canonical Allele Identifier: CA217141
Gene: GFAP HGNC NCBI

Linked Data

ClinVar Variation Id: 66454
ClinVar RCV Id: RCV000056849 RCV000192186
dbSNP Id: rs267607520
MyVariant Identifiers: chr17:g.42985439T>G (hg19) chr17:g.44908071T>G (hg38)
PubMed: PMID:20301351 PMID:21987397
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44908071T>G , CM000679.2:g.44908071T>G GRCh38
NC_000017.10:g.42985439T>G , CM000679.1:g.42985439T>G GRCh37
NC_000017.9:g.40340965T>G NCBI36
NG_008401.1:g.12476A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000253408.11:c.1370A>C ENSP00000253408.5:p.Asp457Ala
ENST00000253408.10:c.1370A>C ENSP00000253408.5:p.Asp457Ala
ENST00000441312.2:n.103A>C
ENST00000585543.6:n.403A>C
ENST00000586125.2:c.185A>C ENSP00000467397.2:p.Asp62Ala
ENST00000588735.3:c.1250A>C MANE Select ENSP00000466598.2:p.Asp417Ala
ENST00000589701.2:n.2157A>C
ENST00000591880.2:c.349A>C
ENST00000592065.2:n.618A>C
ENST00000638304.1:c.169A>C
ENST00000638400.1:c.85A>C
ENST00000638488.1:n.714A>C
ENST00000638618.1:c.905A>C ENSP00000492832.1:p.Asp302Ala
ENST00000638921.1:n.177A>C
ENST00000639042.1:c.222A>C
ENST00000639243.1:c.6A>C
ENST00000639277.1:c.1250A>C ENSP00000492432.1:p.Asp417Ala
ENST00000639369.1:c.100A>C
ENST00000640545.1:c.56A>C ENSP00000491735.1:p.Asp19Ala
ENST00000640859.1:c.64A>C
ENST00000253408.9:c.1250A>C ENSP00000253408.4:p.Asp417Ala
ENST00000585543.5:n.403A>C
ENST00000588735.1:c.128A>C ENSP00000466598.1:p.Asp43Ala
ENST00000589701.1:n.152A>C
ENST00000591880.1:c.116A>C ENSP00000467530.1:p.Asp39Ala
ENST00000592065.1:n.44A>C
ENST00000592706.5:n.122A>C
NM_002055.4:c.1250A>C NP_002046.1:p.Asp417Ala
NM_001363846.1:c.1370A>C NP_001350775.1:p.Asp457Ala
XM_024450690.1:c.1574A>C XP_024306458.1:p.Asp525Ala
XM_024450692.1:c.1454A>C XP_024306460.1:p.Asp485Ala
NM_002055.5:c.1250A>C MANE Select NP_002046.1:p.Asp417Ala
NM_001363846.2:c.1370A>C NP_001350775.1:p.Asp457Ala
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